PRELIMINARY LIST OF CONFIRMED FACULTY MEMBERS
Orange County, USA - Dr. Abdenur is Division Chief of Metabolic Disorders and Director of the Metabolic Laboratory at CHOC Children's in Orange, California, USA. He is Associate Clinical Professor of Pediatrics at the University of California, Irvine and Program/ Training Director for Medical Biochemical/ Clinical Biochemical Genetics for the UCLA Intercampus Medical Genetics Training Program.Dr. Abdenur received his medical degree at the Universidad de Buenos Aires, Argentina. He trained in pediatrics at Hospital Pedro de Elizalde in Argentina; in pediatric endocrinology at North Shore Hospital, Cornell University, NY; in Biochemical Genetics at the University of Colorado, Denver and in Clinical Genetics at Mount Sinai School of Medicine, NY.His areas of interest are Diagnosis and Treatment of Inborn Errors of Metabolism with special interest in small molecules and mitochondrial diseases.
Moeen Al-Sayed is Chairman of the Department of Medical Genetics at King Faisal Specialist Hospital and Research Centre in Riyadh, Kingdom of Saudi Arabia and Professor of Genetics at Al-Faisal University in Riyadh. Professor Al-Sayed is also the Director of the Genetic Counselling Service at King Faisal Specialist Hospital and Research Centre and MSc Genetic Counselling Programme at Al-Faisal University. He has established a Postgraduate Genetic Counselling Programme at King Faisal Specialist Hospital to train Saudi and Arab nationals and GCC nationals in this field and to promote this speciality across the Middle East. Professor Al-Sayed has been a principal investigator and co-investigator in over 24 research projects, including five multicentre trials approved by the US Food and Drug Administration related to the treatment of LSDs and a trial on treatment of Hypophosphatasia.
Dr. Carla G. Asteggiano received her PhD degree in Science and a postdoctoral position in human genetic diseases from the National University of cordoba, Argentina. She is currently teaching in the School of medicine at the Catholic university of Cordoba, She has been a strong advocate for genetic metabolic diseases and working on the field of Congenital Disorder of Glycosylation (CDG) as a Scientific Reasearch at National Council for Scientific and Technological Research (CONICET) since 2004. Her currents projects include the study of biochemical and molecular basis of N- and O-glycosylations disorders and new approach in platelet glycoproteins involves in Ca homeostasis in patient with altered N-glycosylation pathways. She has been a member at the Ethics in Human Research Committiee (CIEIS) and the head of the CDG Research Group in CEMECO, Children Hospital. Her future purpose is to continue collaborating to increase the diagnosis of human glycosylation disorders in Latin America.
Dr. Baker is a professor in the Department of Pediatrics, and Co-Director in the Newborn Screening Laboratory at the University of Wisconsin School of Medicine and Public Health. Dr. Baker was trained in both biochemical and molecular genetics, obtaining a clinical biochemical genetics certification from the American Board of Medical Genetics and Genomics in 2009. She has almost 15 years of experience in routine newborn screening (NBS) with specific interest in, and a successful track record of, applying emerging technologies to implement new screening tests for disorders and to improve ongoing screening tests. She is one of the leading scientists who made Wisconsin the first state in the nation to implement universal NBS for severe combined immunodeficiency (SCID) in 2008. Dr. Baker is currently a member of the Advisory Committee on Heritable Disorders in Newborns and Children, co-chaired for the NewSTEPs Steering Committee, and a member of Molecular Subcommittee for APHL/CDC.
Guilherme Baldo has graduated as Pharmacist at the Federal University of Rio Grande do Sul (UFRGS) in 2005 and obtained a PhD degree in Biochemistry, also at UFRGS, in 2012. Since 2013 he is Assistant Professor at the Department of Physiology of UFRGS, and Technical Editor of the Journal of Inborn Errors of Metabolism and Screening. His research activites focuses on the pathogenesis of lysosomal disorders and development of new treatment for these conditions, especially gene therapy.
Luis Alejandro Barrera is MSc in Clinical Chemistry and PhD in Biochemistry. He has founded two research institutes and a clinic for the diagnosis, research and treatment of inborn errors of metabolism, in Colombia. Two times president of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening, Member of the board of directors of ICORD (International Conference on Rare Diseases), also two times. He has led research in: epidemiology of IEM in Colombia; standardization and development of methods for the diagnosis of IEM; construction of vectors for gene therapy and expression of human recombinant enzymes in microorganism for the treatment of IEM. He was president of the III Latin American meeting that took place in Cartagena (2001) and the IX in Medellin (2013) respectively.
Dr Kaustuv Bhattacharya is a paediatrician trained in the United Kingdom. His metabolic training was in London at Great Ormond Street Hospital for Children. He completed a fellowship in metabolic medicine and newborn screening in Sydney, and completed a clinical research MD in glycogen storage diseases with the late Dr. Philip Lee from the University of London. His work also led to a new carbohydrate therapy for glycogen storage disease being developed and marketed. Dr Bhattacharya was involved in the management of the 1500 adults at The Charles Dent Metabolic Unit, London for several years. He moved to Sydney, Australia in June 2008, where he is now practicing as a specialist paediatric metabolic physician. He is continuing clinical research projects in nutritional therapies, enzyme replacement therapy and newborn screening as well as being involved in novel diagnostic methodologies.
Michael Beck received his MD at the University of Frankfurt/Main in Germany in 1975. He was trained in Pediatrics at the Children's Hospital and trained in Genetics at the Institute of Human Genetics of the University of Frankfurt/Main. In 1993 he received the Professorship for Pediatrics, from 1993 to 2013 he was Senior Consultant at the Children`s Hospital of Mainz (Germany) and Head of the Department for Lysosomal Storage Disorders (Villa Metabolica). He performed studies in the biochemistry of skeletal dysplasias at the Institute of Biochemistry in Munster (Germany) and at the University of Houston (Texas). He was principal investigator in a great number of clinical trials and has organized many international conferences on lysosomal storage disorders. He has published more than 300 papers. His main research interests are rare metabolic and genetic disorders. Presently he is Professor Emeritus at the Institute of Human Genetics at the University of Mainz.
Michael J. Bennett Ph.D., FRCPath, DABCC, FACB, is Professor of Pathology and Laboratory Medicine at the University of Pennsylvania and Chief of Laboratory Medicine at Children's Hospital of Philadelphia. He holds the Evelyn Willing Bromley Endowed Chair and is currently President of AACC. Dr Bennett's research activities include the use of mass spectrometry in the investigation of inborn errors of mitochondrial energy metabolism with a special emphasis on disorders of fatty acid metabolism. He was amongst the first to describe the fatal clinical phenotype and subsequently the first to identify neonatal metabolite abnormalities in medium-chain acyl-CoA dehydrogenase deficiency. Dr Bennett has published over 290 peer reviewed original articles in the field of pediatric clinical chemistry and biochemical genetics and sits on the editorial boards Clinical Chemistry, Journal of Inherited Metabolic Diseases, Molecular Genetics and Metabolism and Annals of Clinical Biochemistry.
Dr. Susan Berry is a medical genetics physician. She attended medical school at the University of Kansas and did her residency in pediatrics and fellowship in medical genetics at the University of Minnesota. Dr. Berry is Division Director for Genetics and Metabolism in the Department of Pediatrics at the University of Minnesota. She is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics and Genomics. She is also a member of the Board of Directors for the Society for Inherited Metabolic Disorders, Co-Chair of the Steering Committee for the Newborn Screening Translational Research Network, a member of the Council on Genetics for the American Academy of Pediatrics, and a member of the Minnesota Department of Health Newborn Screening Advisory Committee. She has a specific research interest in long-term follow-up after newborn screening.
Professor Nenad Blau was a head of the laboratory for the diagnosis of tetrahydrobiopterin and neurotransmitter disorders at the University Children's Hospital in Zürich, Switzerland. He is a senior lecturer in biochemistry and metabolic disorders at the University of Zürich and author of more than 400 research publications, including such standards as "Physician's Guide to the Laboratory Diagnosis of Metabolic Disease", "Physician's Guide to the Treatment and Follow-up of Metabolic Disease", and "Laboratory Guide to the Methods in Biochemical Genetics". For his research in the field of tetrahydrobiopterin and phenylketonuria he received in 2001 the Horst Bickel-Award, in 2005 the Gowland Hopkins Award, and in 2011 he was honored by Asbjørn Følling award. Professor Blau is currently Senior Consultant in Biochemical Genetics at the Children?s Hospital in Heidelberg, Germany and director of the BIOPKU, Switzerland.
I am currently national laboratory lead within the UK for newborn screening on behalf of Public Health England. I am also Clinical director for Pharmacy, Diagnostics and Genetics at Sheffield Children's Hospital. My research interests include communications with parents, next generation sequencing applied within screening and the continued development and use of EQA schemes to support diagnosis in metabolic disease and screening.
Biochemist and Doctor in Biochemistry. National University of La Plata - Argentina. Director of Newborn Screening Laboratory and Chief of the External Quality Assurance Scheme for Newborn Screening. Fundación Bioquímica Argentina. Professor of "Pathology Biochemistry" and "Newborn Screening for Congenital Diseases" at the National University of La Plata - Argentina. Chief of Blood Bank Laboratory at Hemotherapy Institute of the Buenos Aires Province. La Plata. Robert Guthrie Award 2015. International Society for Neonatal Screening.- Member of the Editorial Board of the International Journal of Neonatal Screening - IJNS.
PhD in Medicine from the University of Amsterdam, is an Assistant Professor and heads the Neurolipid Biology group at IBMC-i3S, Porto, Portugal. The research aims at understanding how lipid synthesis and catabolism govern biological and functional processes in the healthy nervous tissue and in neurometabolic disorders. Using mouse models, we combine in vitro and in vivo studies to integrate physiological cell processes with diseases states. We also develop and validate new therapeutic pre-clinical approaches based on understanding the cellular and biochemical mechanisms behind the pathology. The lab has a particular interest in ether-phospholipids (plasmalogens) from previous work on the cloning of the gene causing RCDP type 1, the characterization of the mutational spectrum, the generation of a mouse model for RCDP, and the first pre-clinical evaluation of a candidate therapy. Recent work has focused on understating the role of plasmalogens in neuron and glial biology.
MD. Pediatric Neurologist: Chief of the Pediatric Neurology Fellowship Program. University of Valparaiso, Chile; Chief of the Inborn Errors of Metabolism group at the Institute of Nutrition and Food Technology (INTA), University of Chile; President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN)
MD, Phd.Head of Neuropediatric Service in Hospital Universitary Sant Joan de Deu de Barcelona from 2001, professor of Pediatrics in the University of Barcelona and the coordinator of the PKU Unit in the same Hospital.Has published more than 200 papers in national and international scientific journals with impact factor and two Neuropediatric books: Neurologia para Pediatras, Ed Panamericana 2011; Trastornos paroxisticos no epilépticos, Ed Viguera 2014.He has been a participant in 31 Research Projects. His areas of research interest include neonatal seizures, epilepsy in inborn errors of metabolism; inborn errors of metabolism (i.e. phenylketonuria, glutaric aciduria, and cerebral creatine deficiency), and others (i.e., alternating hemiplegia in infancy). He is past-President of the Spanish Neuropediatric Society, European Society of Pediatric Neurology, and AINP President ( Iberamerican Academy of Pediatric Neurology), SSIEM Council Member ( 2006-14), Co-chairman of the ICIEM meeting in Barcelona (setember 2013) , member of the ICNA board ( 2014-)
Ana Chiesa. MD PhD. Pediatric Endocrinologist. Staff Member of the Endocrinology Division of the Buenos Aires Children Hospital R. Gutierrez . Clinical Researcher at CONICET. CEDIE "Dr Cesar Bergada" and of the Buenos Aires City Goverment. Director of the Neonatal screening program at Fundacion de Endocrinologia infantil (FEI). Medical coordinator of the Buenos Aires Government neonatal screening program.
John Christodoulou is the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, and Director of the Genetics Research Theme, at the Murdoch Childrens Research Institute in Melbourne, Australia. He is a University of Sydney graduate, and has qualifications in paediatrics, medical genetics and genetic pathology. His postdoctoral training in metabolic disorders was at the Hospital for Sick Children, Toronto (1990 - 1992). He returned to Sydney and was the Director of the Western Sydney Genetics Program at the Children's Hospital at Westmead until 2015. He has an active laboratory-based Rett syndrome and mitochondrial disorders research program, and has a major research interest in the application of next generation sequencing (NGS) technologies for disease gene discovery in rare Mendelian disorders, and is the co-lead of the Australian Genomics Health Alliance, whose focus is to bring NGS diagnostics into mainstream clinical practice in Australia.
Lorne Clarke is a professor of medical genetics at the University of British Columbia and is a clinical and biochemical geneticist in the Provincial Medical Genetics Program where he is the medical director. He serves as a scientific advisor to many biotechnology corporations involved in the development of rare disease therapeutics as well as rare disease philanthropic organizations and disease registries. He has been in the field of lysosomal storage diseases for over 25 years and has published over 60 research papers in this area. His group was one of the first to describe mutations underlying MPS I and was the first group to develop a mouse model of MPS I. His center was one of the largest centers involved in the Phase III/IV trial of ERT for MPS I. His group has recently produced mouse models of Gaucher disease as well as Sandhoff disease.
London, UK - Prof Peter Clayton studied medicine at King`s College, Cambridge and University College Hospital, London. He trained in academic paediatrics in London including at Great Ormond Street Hospital / Institute of Child Health where he undertook his MD thesis on analysis of bile acids by GC-MS. He was appointed Metabolic Consultant at Great Ormond Street in 1987 and Professor of Paediatric Metabolic Disease and Hepatology in the UCL Institute of Child Health in 1998. His research interests include inborn errors of bile acid and sterol metabolism and inborn errors affecting vitamin B6 metabolism. He is currently Chairman of the SSIEM.
Prof. Veronica Cornejo Espinoza is a Nutritionist and holds a Master Degree in Nutrition at the University of Chile and is also a specialist in metabolic diseases at the Children's Hospital of Los Angeles, California USA.Currently, she is Director of the Institute of Nutrition and Food Technology, INTA at the University of Chile. From 2013 to 2014 she was Head of Human Nutrition Academic Unit at INTA and Head of Genetics and Metabolic Diseases Research Laboratory at INTA from 2008 to 2014. Since 1995 she served as an advisor for the National Program of Neonatal Phenylketonuria and Congenital Hypothryroidism of the Chilean Ministry of Health. She also participates as an associate editor of the Journal of Inborn Errors of Metabolism and Screening and the Chilean Journal of Nutrition. She authored of more than 60 national and international publications and more than 70 book chapters.
PhD, MD, is Dean for Genetics & Genomic Medicine, Professor & Chairman Emeritus, Department of Genetics & Genomic Sciences at the Icahn School of Medicine at Mount Sinai. His research includes lysosomal storage diseases (LSDs) the inherited porphyrias, in particular, their treatment. His LSD basic clinical research focuses on Fabry, Gaucher, Niemann-Pick A/B, Schindler diseases. His laboratory developed ERT for Fabry Niemann-Pick diseases, pharmacologic chaperone therapy for Fabry disease, was co-founder of Amicus Therapeutics. He has published 740 research papers, chapters, nine edited books. Current efforts focus on gene therapy for Fabry disease using gene editing. His laboratory developed an RNAi therapy for the acute porphyrias, now in clinical trials. He is an elected Fellow of the American Academy for the Advancement of Science, an elected member of the Academy of Medicine, National Academies of Sciences, Engineering & Medicine.
David Dimmock is a nationally-renowned expert on the field of clinical genomic medicine and joined the Rady Children's Institute for Genomic Medicine, located in San Diego, CA, in June 2016. He is the clinician primarily responsible for the first use of exome sequencing to change the medical management of a child. This case was the subject of Pulitzer Prize winning articles and the book, One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine. In 2010, he was a leader of the team that deployed the first clinical end-to-end whole genome sequencing test. This solution included patient counselling and consent, clinical laboratory testing, data analysis, data return. Before joining Rady Children's, practice focused on the diagnosis of heritable disorders in children and adults and the long term care of patients with mitochondrial and metabolic disorders. He has been the principal investigator for multiple industry sponsored studies evaluating novel therapeutics for these.
Carlo Dionisi-Vici - Rome, Italy, obtained his MD degree and his residency in Paediatrics at the University "la Sapienza" in Rome. He is currently head of the Division of Metabolic Diseases, Department of Paediatric Medicine, at the Bambino Gesù Children's Research Hospital in Rome, Italy. He is member of evaluation programs on newborn screening in Italy. His research concerns organic acidemias, urea cycle defects, homocystinurias, management of metabolic emergencies, mitochondrial and lysosomal disorders and hyperinsulinism. He has conducted translational research for the development of guidelines in inborn errors of metabolism and applied new technologies to improve diagnosis, prevention and treatment of metabolic diseases.
Currently Position; Post Doctoral Fellow at the University of North Texas Health Science Center (Fort Worth) Doctorate of Phiolosophy from the University of North Texas (Denton) Master of Science from UT Southwestern (Dallas) Bachelor of Science from Texas Tech University (Lubbock)
Areeg El-Gharbawy, MD completed her medical education, residency training, MSc and DSc degrees in Internal Medicine at Cairo University, Egypt before moving to the United States. In the USA, she completed an Internal Medicine- Endocrinology clinical investigator track in Milwaukee Wisconsin, followed by medical genetics training in clinical genetics at NIH, training in skeletal dysplasia and clinical biochemical genetics at UCLA combined program, followed by clinical biochemical genetics training with research training at Duke University hospital. She is board-certified in Internal Medicine, Endocrinology diabetes and metabolism, clinical genetics and biochemical genetics. She currently holds a faculty position in Pediatrics, Medical genetics at the CHP of UPMC and University of Pittsburgh school of medicine. Her current research interests involve energy disorders including FAODs, Glycogen storage disease, as well as optimizing treatment of rare diseases including small molecule relat
Kumamoto, Japan, Dr. Fumio Endo received his M.D. and Ph.D. from Kumamoto University in Kumamoto, Japan. After he received PhD, he went to Emory University in Atlanta, Georgia, USA where he worked with Skip Elsas at the Department of Pediatrics, Medical and Biochemical Genetics. After Dr Endo came back to Japan, he became a faculty member of Department of Pediatrics at Kumamoto University. Currently, Dr. Endo is Professor and Chairman of Department of Pediatrics at Kumamoto University. He worked as the Chairman of Japan Society of Inherited Metabolic Diseases from 2007 to 2013. He is one of the founders of Asian Society for Inherited Metabolic Diseases, and is serving as a Chairman of the society since 2010.
After receiving her medical degree in Colombia in 1986, Dr. Maria Luisa Escolar travelled to the United States to complete a Master's of Science degree in nutrition at Columbia University in New York. She then went on to complete a residency in pediatrics in 1993 and a fellowship in Child Development and Behavioral Pediatrics at New York Hospital Cornell Medical Center. In 2000, while practicing at Duke School of Medicine, Dr. Escolar encountered a patient with Krabbe disease. Inspired by the experience, she soon after founded and became Director of the Study of Neurodevelopment in Rare Disorders Program (NDRD). In 2011, she relocated the NDRD to the University of Pittsburgh, where she was appointed as an associate professor. Today her research focuses on developing better methods to understand the impact of brain abnormalities on behavioral function. She has published more than 60 papers in medical journals, including two articles papers in the New England Journal Medicine.
Prof. Eto is currently a Director of Advanced Clinical Research Center, Institute of Neurological Diseases and Professor Emeritus , Jikei University School of Medicine. He served as a Professor and chairman, Department of Pediatrics, Director of DNA Institute for Medical Science at the Jikei University School of Medicine. Prof. Eto studied for more than 40 years in the field of lysosomal storage diseases and has left many achievements. He also served as a President of Japan Pediatric Society for four years and also as a President of Japan Society of Inherited Metabolic Disorders for 7 years. Internationally, he also serves as a Standing Committee Member of International Pediatric Association for 6 years and as a President of the 10th International Congress of Inborn Error of Metabolism, 2006, Tokyo. Currently, he has studying about clinical and basic research in LSD and published more than 350 English peer reviewed papers.
Dr Janice Fletcher is a paediatrician, geneticist and genetic pathologist with specialist training in inborn errors of metabolism. She is the Australian communicating member for the Society for the Study of Inborn Errors of Metabolism (UK) and Secretary of the Organising Committee for the International Congress of IEM. Her interests include achieving quality outcomes in newborn screening and inborn errors of metabolism, training and the interface between laboratory and clinician.
Rio de Janeiro, BrazilMD, specialized in Pediatrics and Clinical Pathology, holds an MBA from Coppead Institute of the Federal University of Rio de Janeiro. Former president and current board member of the Brazilian Society of Clinical Pathology (SBPC), founding member and current president of the Brazilian Society of Neonatal Screening and Inborn Errors of Metabolism. Founder and CEO of DLE Laboratories focused on rare diseases, human genetics and expanded newborn screening.
Born and educated, Manchester U.K, study and Ph.D. Manchester. Post -doc with George Komrower (Manchester) then Leon Rosenberg to 1977(Yale). Employed as head Biochemist, Willink Biochemical Genetics Unit, Manchester to 1990 then head of labs at Basel University Children`s Hospital. Worked on diagnostics and Research in various IEMs especially homocysteine, folate and vitamin B12 disorders. Organising commitees and Presidents, SSIEM, ERNDIM, Swiss Group for IEM. Since official retirement in 2011 engaged in ERNDIM, Eurogentest, SSIEM academy and Research at the University Children`s Hospital Zürich. Outside interests, family, culture, hiking and supporting Manchester City.
Education, Professional experience:Graduate School of Medicine, Gifu University (1987-1990, PhD); Senior Research Associate at Department of Pediatrics, Gifu University School of Medicine (1993-2000); Visiting Scientist, Cancer and Cell Biology, Queensland Instituteof Medical Research, Australia (2000-2001); Assistant professor at Department of Pediatrics, Gifu University School of Medicine (2002-2004); Associate Professor at Department of Pediatrics, Graduate School of Medicine, Gifu University (2004-2007); Professor, Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University (2007-2013); Professor, Department of Pediatrics, Graduate School of Medicine, Gifu University /Membership of academic societies:SSIEM, JSIMD (executive board members) JPS?executive board members "JSMS" executive board member's Award: Promotion Award (JSIMD 1993) ; Promotion Award (Japanese Society of Human Genetics1998.
Eric Goetzman, PhD is an Associate Professor of Pediatrics at the University of Pittsburgh, Pittsburgh, PA USA. His laboratory studies mitochondrial function and fatty acid oxidation (FAO), the pathway by which fatty acids are broken down for energy. Mutations in the FAO genes are among the most prevalent inborn errors of metabolism. Recently, it was discovered that most if not all FAO enzymes are subject to post-translational modification including lysine acetylation and lysine succinylation. There are three mitochondrial sirtuin deacylases (SIRT3, SIRT4, SIRT5), which are believed to reverse these modifications. The lab's current research focuses on the functional effects of lysine acetylation and succinylation on the FAO pathway and the role the sirtuins play in regulating metabolism. Other lab interests include the role of fatty acid metabolism during kidney injury and in liver cancers.
Paul R. Harmatz, MD, is Associate in Gastroenterology at UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA. He received his BA from Stanford University and MD from Dartmouth Medical School, Hanover, NH and completed his internship and residency training in Pediatrics at Harbor-UCLA Medical Center, Torrance, CA. Following a research fellowship in Pediatric Gastroenterology and Nutrition at Massachusetts General Hospital, Boston, MA, he remained in Boston until 1992 as faculty member in Pediatrics at Harvard Medical School. During the last 17 years, Dr. Harmatz has participated in clinical trials in patients with mucopolysaccharidosis (MPS) I, II, IIIb, IVA, VI, and VII and has managed clinical care for MPS patients living in northern California. He has written over 200 original scientific articles, book chapters, and abstracts on gastrointestinal immunophysiology, iron overload,
Isabel Ibarra is biochemistry in the Laboratory of Inborn Errors of Metabolisms in Mexico City, academic of the National Autonomous University of Mexico, and holds a Master degree in Biochemical Sciences. She has been responsible for more than 20 years for the diagnosis an biochemical follow up of patient with inborn errors of intermediary metabolism (organic acidurias and aminoacidopathies), she is member of the Board of Directors of the Latin American Society of Innate Errors of Metabolism and Neonatal Screening.
MD, PhD, is Professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS), Director of the WHO Collaborating Centre for the Development of Medical Genetics Services in Latin America, and member of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil. He is also Coordinator of the Brazilian Institute of Population Medical Genetics (INAGEMP) and of the Latin American School of Human and Medical Genetics (ELAG), is the Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening, and Full Member of the Brazilian Academy of Sciences. Prof. Giugliani's main interests are concentrated in the field of the lysosomal storage diseases, with many contributions about screening, diagnosis, natural history and innovative therapies of these conditions. He is author of several book chapters, and of over 400 papers published in peer-reviewed journals.
After obtaining a PhD in organic chemistry, Professor Gregersen worked as a clinical biochemist in Copenhagen and later in Aarhus, where he directed a diagnostics laboratory for Inborn Errors of Metabolism. Since 1974 he has participated in the development of the field of mitochondrial Fatty Acid Oxidation (FAO) deficiencies, including MCADD, SCADD, VLCADD and MADD. After the discoveries in the 1990s of the gene defects in these and many other disorders, his interest has been focused on the consequences of gene variations and other damages at the protein level as well as for the survival and death of the cells carrying the defects. The focus has been cell biological studies of mitochondrial dysfunction and oxidative stress, which is either a cause or a consequence involved in all diseases, including the FAO defects and other mitochondrial disorders. An important aim is to develop protein and other biochemical biomarker profiles to determine the balance between survival and death mecha.
Dr Yamina Hamel received her Ph.D in immunology from Paris VI University in the lab of Pr Alain Fischer in Necker Hospital . Then, she moved to Seattle to pursue her post-doctoral studies in the lab of Pr Phil Greenberg at the University of Washington. She joined the lab of pr Pascale de Lonlay at Imagine institute, where she studies inflammation and mitochondrial dynamics and its importance in rhabdomyolysis.
Johannes Häberle, MD, is a trained pediatrician, neonatologist, intensivist and metabolic specialist working at the University Children's Hospital Zurich. He has a longstanding expertise in the diagnosis and management of defects in ureagenesis. He is co-founder and executive and scientific board member of the European Registry and Network for Intoxication Type Metabolic Disorders (EIMD) and of the Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG); he is head of the working group for development of European Guidelines for the Diagnosis and Management of Urea Cycle Disorders; he is council member of SSIEM (Society for the Study of Inborn Errors of Metabolism) and member of ETAC (European Training Academy of SSIEM).
Dafne DG Horovitz is a clinical geneticist at the National Institute for Women, Children and Adolescent Health Fernandes Figueira/Fiocruz in Rio de Janeiro, Brazil. Her work involves genetic counseling, birth defects, prenatal diagnosis, chromosomal abnormalities, new treatments for genetic diseases and public health policies in genetics. Dr. Horovitz coordinates the medical residency program for Medical Genetics and is a professor in the post-graduation programs of Public Health and Applied Research. She has been involved in the treatment of lysosomal storage disorders for the past 12 years, has implemented and coordinates the hospital's enzyme replacement therapy unit. Dr. Horovitz is vice-president of the Brazilian Society of Medical Genetics and a consulting member of the Brazilian Ministry of Health for the special policy on rare diseases. She has has published and collaborated in research on medical genetics, lysosomal storage disorders and public health.
M.D. R. Rodney Howell, M. D. is Professor of Pediatrics and Chairman Emeritus, and Member of the Hussman Institute for Human Genomics at the Miller School of Medicine of the University of Miami. He was recognized in 2007 with the Lifetime Achievement Award from the Duke University Medical Alumni Association and with the Lifetime Achievement Award of the American College of Medical Genetics Foundation in 2012. To commemorate the 30th anniversary of the Federal Rare Disease Act, he was named one of the 30 Rare Disease Heroes by the U. S. FDA. Dr. Howell was the Founding Chair of the Secretary's Advisory Committee of Heritable Disorders in Newborns and Children, the congressionally-mandated Committee that advises the Secretary of HHS on genetic testing in children. Dr. Howell is also the Chairman of the Muscular Dystrophy Association Board of Directors. He was elected President of the International Society of Neonatal Screening in 2016.
1981: Graduate The Jikei University School of Medicine; 1989-1992: Visiting Assistant Professor, Department of Pediatrics, Georgetown University, Washington D.C., USA; 1996: Assistant Professor, Department of Pediatrics, The Jikei University School of Medicine; 2002: Associate Professor, Department of Pediatrics, The Jikei University School of Medicine; 2008: Executive Chairman and Professor, Department of Pediatrics, The Jikei University School of Medicine; - Academic Position: Chairman of the Board of Directors, Japanese Society for Inherited Metabolic Disease (JSIMD); Board of Director, Japan Pediatric Society (JPS); Honorary Member, American Pediatric Society (APS); Councilor, The Japanese Society of Child Neurology; Councilor, The Japanese Society for Gene Diagnosis and Therapy.
Anita Inwood has been a paediatric nurse for 26 years and working as the senior nurse in metabolic medicine for the last 14yrs. She qualified as a Metabolic Nurse Practitioner (NP) through the University of Queensland in 2015. She has been an executive committee member of the Australasian Society of Inborn Errors of Metabolism (ASIEM) since 2005 and is currently the Chairperson. She won a Churchill Fellowship in 2012 and gained the opportunity to work in the United Kingdom with a focus on lysosomal storage disease and transition. Based on that experience she led the formation of the Queensland Lifespan Metabolic Medicine Service. Anita's clinical responsibility is the management of children with phenylketonuria, fatty acid oxidation disorders and other causes of hypoglycaemia. Her main research interest has been in the mucopolysaccharidoses.
Prof. Andrés Klein's work focusses on the identification of modifier genes of biological processes and pathologies. Recently he has developed novel models of Gaucher disease (GD) by taking advantage of different genetic backgrounds of mice. This strategy led to the discovery of a potential therapy for neuropathic GD. Andrés Klein received his PhD in Cell Biology at the Pontificia Universidad Católica de Chile where he studied cell death mechanisms involved in Niemann-Pick type C (NPC) brain degeneration. He did a postdoc at Stanford University followed by a second postdoc at the Weizmann Institute of Science. Dr. Klein has received several awards including the Chilean young innovator prize by MIT technology reviews and he was selected as one of the top 100 young Chilean leaders of 2013. After working for a couple of years at TIGEM in Italy Dr. Klein has joined the Centre for Genetics and Genomics at the Universidad del Desarrollo in Chile, where he holds a Professorship in Genetics.
Prof. Dr Stefan Kölker, MD, is Head of the Division of Child Neurology and Metabolic Medicine at the Centre for Pediatric and Adolescent Medicine at the University of Heidelberg. He is coordinator of multi-centre studies on organic acidurias and chairman of an international guideline development group (glutaric aciduria type I). In addition to his clinical and diagnostic expertise, he has a long-standing experience in basic research focusing on organic acidurias and energy metabolism. He receives grants from the European Union, German Research Community (DFG), Ministry of Education and Science (BMBF). He is coordinator of the EU-funded project "E-IMD" and his team manage patient registries for the consortia "E-HOD" (homocystinurias and (re-)methylation disorders) and "iNTD" (neurotransmitter-related disorders), extending the disease panel to 47 IMDs. He is vice-coordinator and subnetwork coordinator of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).
Graduated from the School of General Medicine, Charles University in Prague in 1985. Since his graduation he has been working in the Institute of Inherited Metabolic Diseases and he specialized in clinical biochemistry and medical genetics, in 2012 he became the full Professor of Medical Genetics. His main interests are genetic, biochemical, clinical, epidemiological and ethical aspects of inherited metabolic disorders with a special interest in disorders of homocysteine and B-vitamins metabolism including cystathionine beta-synthase deficiency. V.Kozich is also involved in organization of neonatal screening in the Czech Republic and serves as a Chairman of the national Coordination Center on Neonatal Screening in the Czech Republic. He is an author of over 100 publications in peer reviewed international journals and of several chapters in books; he has been an invited speaker at various international conferences.
Dr. Kozicz completed his medical studies in 1990 at the University of Pecs, in Hungary, he received full training in gross anatomy, histology and embryology. Dr. Kozicz obtained his PhD degree in Neurosciences at the University of Pecs. Dr Kozicz was a post-doc fellow in the laboratory of Prof. Dr. Akira Arimura at Tulane University in New Orleans, USA. In 2013 he was appointed as chair of Department of Anatomy at Radboud university medical center, Nijmegen, the Netherlands. The Kozicz lab focuses mainly on mitochondria and energy metabolism and the impact of mitochondrial dysfunction on structural and functional correlates of stress-related plasticity. Dr Kozicz's group studies both preclinical models and human patients to ultimately create the scientific groundwork for therapeutic interventions to treat stress-related disorders such as anxiety and depression.
Guilhian Leipnitz, graduated in Pharmacy at Universidade Federal do Rio Grande do Sul (UFRGS), Adjunct Professor of Biochemistry, Department of Biochemistry, Brazil, supervisor of MSc and PhD students. PhD degree in Biological Sciences: Biochemistry at UFRGS. Post-doctorate, Department of Biochemistry, UFRGS (2009-2010), and Department of Pediatrics, University of Pittsburgh, USA (2015-2016). Affiliated Member of Brazilian Academy of Sciences (ABC) (2013-2017). Research focuses on the study of the pathophysiology of Inborn Errors of Metabolism (IEM), especially aminoacidopathies and organic acidemias, in animal models. He investigates the influence of the metabolites accumulating in IEM on important cellular systems, such as energy metabolism, redox homeostasis, and signaling pathways. Over 70 published manuscripts in international scientific journals of high impact. Reviewer of many Journals in the field of Biochemistry and Neuroscience.
Fatty acid oxidation disorders, carnitine deficiency, phenylketonuria, organic acidemias, clinical management, sapropterin, membrane transport, brain creatine deficiency syndromes.
Dr Charles M. Lourenço is a clinical biochemical geneticist with a special interest in genetic neurodegenerative disorders. He is a Consultant Physician at the Neurogenetics Clinic of the Hospital of Ribeirão Preto, University of São Paulo, Brazil, where he is also a member of the Lysosomal Unit being involved in the care of patients with lysosomal storage disorders. Dr Lourenço holds a PhD in neurogenetics and his PhD thesis focused on spinocerebellar ataxia of early onset, especially on a subset of patients with ataxia and hypogonadism. Most recently, he has been involved in a new multidisciplinary clinic at his hospital, which mainly focuses on investigation of childhood neurodegenerative disorders, and in particular patients with early-onset cerebellar ataxia and genetic white matter disorders. Dr Lourenço's interests include the clinical and molecular aspects of leukodystrophies, hereditary spastic parapareses, metabolic causes of neonatal cholestasis, hereditary spinocerebe.
Dr Manoli is a physician scientist at the Organic Acid Research Section of the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), in Bethesda, MD. After receiving her M.D. from the University of Athens, Greece, she pursued residency in pediatrics at the University of Oxford, UK, and postgraduate training including a M.Sc. in endocrinology and a Ph.D. in genetics, at the University of Athens, Greece. She worked as a postdoctoral fellow on mitochondrial genomics at the National Center for Complementary and Alternative Medicine, NIH, Bethesda, MD. Subsequently, she trained in clinical and biochemical genetics, at the Medical Genetics Branch, NHGRI, NIH, and was ABMG certified in 2009. She works on animal models and the clinic to elucidate the pathophysiology, discover new disease biomarkers and test small molecule therapies, with the aim to develop better treatments for methylmalonic acidemias (MMA) and intracellular cobalamin metabolism defects.
Ana Maria Martins, M.D. Ph.D, graduated in Medicine at University of Taubaté, specialization in Pediatrics, Genetics and Inborn Errors of Metabolism, at Federal University of São Paulo. Master's degree in Pediatrics and Applied Sciences at Federal University of São Paulo, Ph.D. In Medicine at Federal University of São Paulo, postdoctoral at Pennsylvania Hospital in Pittsburgh, postdoctoral at the University of California (San Diego) and certificate by Brazilian Society of Clinical Genetics. Currently Associate Professor at the Federal University of São Paulo and Director of Center of Reference in Inborn Errors of Metabolism.
Dietrich Matern, M.D., Ph.D., is a Professor of Laboratory Medicine, Medical Genetics and Pediatrics, and serves as Chair of Mayo Clinic's Division of Laboratory Genetics and Genomics, as well as co-director of Mayo Clinic's Biochemical Genetics Laboratory. He has a primary interest in the biochemical diagnosis of inborn errors of metabolism, particularly lysosomal storage disorders, mitochondrial fatty acid beta-oxidation disorders, organic acidemias, amino acidopathies, and glycogen storage disorders. Dr. Matern's research activities involve the development and improvement of laboratory assays for the effective and efficient screening, diagnosis and follow-up of patients with inborn errors of metabolism. A particular focus in recent years has been on newborn screening for several lysosomal storage disorders, X-adrenoleukodystrophy, Friedreich ataxia and Wilson disease.
Dr Helen Michelakakis studied Biochemistry at Bedford College University of London, UK. She completed her PhD at the Division of Inherited Metabolic Diseases, MRC Clinical Research Centre, Harrow, UK, on "studies on the factors involved in the secretion of enzymic and non-enzymic contents of rat liver lysosomes". She was awarded her PhD from London University on 1981.She is Head of the Department of Enzymology and Cellular Function at the Institute of Child Health in Athens, where diagnosis and follow-up of patients with lysosomal storage diseases and other metabolic disorders are carried out. She is founding member and Vice -Chairperson of the Hellenic Society for the Study of Inborn Errors of Metabolism, founding member of and Vice President till 2016 of the European Working Group on Gaucher disease .She is currently member of the SSIEM Council. Her research interests include the genetic basis and pathophysiology of lysosomal storage diseases.
Fanny Mochel is an associate professor of genetics at the University Pierre and Marie Curie (UPMC). She received her MD in Genetics in 2005 at the University Paris Descartes, her PhD in Neuroscience in 2010 at UPMC and is board certified in inborn errors of metabolism. Dr Mochel runs a Neurometabolic clinic at La Pitié-Salpêtrière university hospital. She is co-chair of the French society for inborn of errors of metabolism in adults (SFEIMA) and has recently joined the council of the Society for the Study of Inborn Errors of Metabolism (SSIEM). Her research is focused on the characterization and treatment of brain energy deficiencies in neurogenetic and neurometabolic diseases, especially Huntington disease and GLUT1 deficiency syndrome. Her major areas of expertise are the identification of neurometabolic biomarkers in vitro (metabolomics) and in vivo (nuclear magnetic resonance spectroscopy) as well as therapeutic approaches targeting the Krebs cycle.
Dr Morava graduated as a Medical Doctor by the University of Pecs, Hungary. She specialized in pediatrics in 1994. She specialized in human genetics in 1999. She defended her PhD thesis in 2000. She trained in clinical biochemical genetics at Tulane University between 1996-1998, and worked as a clinical geneticist until 2002, and as a metabolic pediatrician at umcRadboud in the Netherlands till 2012. Since 2012 she has been full professor at the Tulane University Medical Center, at the Hayward Genetics Center, as a biochemical geneticist. Since 2015 she is also faculty at the University Hospitals Leuven, in Belgium. Eva Morava is a member of international committees including patient associations, like CDG-CARE, and scientific advice groups, including the SSIEM council. Her list of publications includes more than 200 peer reviewed scientific papers. Her special research interests are on CDG. She is editor in chief of the JIMD and vice-coordinator for MetabERN.
MD, PhD, Professor of Medicine, Pediatrics, Pathology, and GeneticsUniversity of California, San Diego School of Medicine - Dr. Naviaux is the founder and co-director of the Mitochondrial and Metabolic Disease Center (MMDC), and Professor of Medicine, Pediatrics, Pathology, and Genetics at UCSD. He directs a core laboratory for metabolomics at UCSD. He is the co-founder and a former president of the Mitochondrial Medicine Society (MMS), and a founding associate editor of the journal Mitochondrion. He is an internationally known expert in human genetics, inborn errors of metabolism, metabolomics, and mitochondrial medicine. He is the discoverer of the cause of Alpers syndrome?the oldest Mendelian form of mitochondrial disease?and the developer of the first DNA test to diagnose it. His lab also discovered the first mitochondrial DNA (mtDNA) mutations that cause autism and has developed a number of advanced technologies like biocavity laser and novel metabolomics methods.
Professor, Department of Pediatrics, Faculty of Medicine, Saitama Medical University. Previous Appointments: Principal Investigator: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science; 1992-1994 Honorary Visiting Scientist (On leave from Saitama Medical University): Department of Biochemistry, La Trobe University, Bundoora, Victoria, Australia; 2002-2003 Research Areas: Inherited Metabolic Diseases: Mitochondrial Respiratory Chain Disorders, Urea Cycle Disorders, Fatty Acid Oxidation Defects Dyslipidemia Diabetes Mellitus.
MD, PhD, FRCP(C) - Is a medical and molecular geneticist. He is Professor in the Department of Biochemistry and Director of the Clinical Genomics Laboratory of the Faculty of Medicine of Universidade Federal de Minas Gerais in Belo Horizonte, Brazil. He is also President of GENE - Nucleo de Genética Médica, a biotechnology company that provides clinical genetics services and DNA diagnostics in Brazil. Professor Sergio Pena is a former President of the Brazilian Society of Biochemistry and Molecular Biology. He is a member of the Brazilian Academy of Sciences and of the Academy of Sciences of the Developing World (TWAS). Professor Sergio Pena received the Great Cross of the Brazilian National Order of Scientific Merit. In 2007, he was awarded the International TWAS Prize in Medical Sciences.
Prof. Frances Platt obtained her PhD from the University of Bath, UK, and was a postdoctoral fellow at Washington University Medical School in St. Louis, USA. She was a Lister Institute Senior Research Fellow at the University of Oxford. Prof. Platt's main research interests include the biology and pathobiology of glycosphingolipids. She pioneered the development of miglustat for the treatment of glycosphingolipid storage diseases. In 1999, Prof. Platt was awarded the Alan Gordon Memorial Award and the Horst Bickel Award for advances in metabolic disease therapy. She was elected a fellow of the Academy of Medical Sciences in 2011. She is a Wellcome Investigator in Science.
Kimiyo Raymond, is presently working for Mayo Clinic Colleague of Medicine, Department of Laboratory Medicine, Laboratory Genetics in the capacity of co-director for the Biochemical Genetics Laboratory. My interest encompasses lysosomal storage diseases, and congenital disorders of glycosylation. My main insolvent within the laboratory are laboratory genetics test interpretation, laboratory test developed maintenance and troubleshooting, and development and validation of new test platforms complying with local, national and federal regulatory agency requirements for clinical diagnostic testing.
Dr. Antonia Ribes, received her speciality in Clinical Biochemistry and her PhD at the University of Barcelona. At present she is the head of the Division of Inherited Metabolic Diseases at Hospital Clinic of Barcelona, Spain. She is the group leader of the 737 Unit of the Spanish Research Network for Rare Diseases (CIBERER), and the group leader of Inherited Metabolic Diseases at the Research Institute of Hospital Clinic (IDIBAPS). She is a council member of the SSIEM. She has focused her research on translational medicine in the field of inherited metabolic diseases, particularly in the energy metabolism. The strategic objective of her group is to investigate the genetic and biochemical bases, as well as the physiopathological mechanisms of these diseases, with the ultimate aim to develop new diagnostic and therapeutic strategies.
MS Cristiano Rizzo is the Principal Biologist and Specialist in Clinical Biochemistry at the Metabolic Laboratory of Bambino Gesù Children's Hospital in Rome, ItalyHe in his career was responsible for the development of new methods of analysis using chromatography and mass spectrometry for the study of several hereditary metabolic diseases. He has been a professor of clinical application of mass spectrometry in various Italian and foreign universities. He has been a Coordinator of the Permanent Italian School of Laboratory Medicine SIBioC. He is Member and Advisor of the Italian Society for the Study of Hereditary Metabolic Diseases and Neonatal Screening and he is a member of the Board of Trustees of ERNDIM Foundation.He is the author of 46 research articles in international journals, 4 book chapters and 40 oral presentations at international conferences.
MD, PhD - Graduated from Graduate School of Medicine, Tokushima University in 1970, and got a PhD degree at Tokushima University. 1980, Professor of Biochemistry, Faculty of Medicine, Kagoshima University. At present, Guest Researcher at Department of Hygiene and Health Promotion Medicine, Kagoshima University Graduate School of Medical and Dental Sciences. After characterization of a type of hepatocerebral disease biochemically as adult-onset type II citrullinemia (CTLN2), discovered the causative gene for CTLN2, showed that the same gene is the cause of neonatal intrahepatic cholestasis (NICCD), named the diseases citrin deficiency, and identified the gene encoding mitochondrial aspartate glutamate carrier. Also invented a mouse model for citrin deficiency, citrin and mitochondrial glycerol 3-phosphate dehydrogenase double-KO mouse, and by using the model, characterized pathophysiology of citrin deficiency and developed novel therapeutic procedures for the disease.
Amsterdam, NetherlandsProf Gajja Salomons obtained her PhD at the Netherlands Cancer Institute/University of Amsterdam. She took over the Metabolic Laboratory of the VU University Medical Center in Amsterdam that was lead by Prof Jakobs until 2012. The laboratory provides diagnostics in inborn errors of metabolism on the following levels: metabolites, enzymes, DNA/RNA and at the functional level using overexpression models. The research interest of the Metabolic Laboratory is unraveling the cause of neurometabolic disorders, development of diagnostic approaches and translational research. Prof Salomons is chairman of the Society for the Study of Inborn Errors of Metabolism (SSIEM) since september 2016.
Jörn Oliver SASS is Professor of Bioanalytics and Biochemistry at the Bonn-Rhein-Sieg University of Applied Sciences in Germany. Upon the completion of his doctoral degree in Biochemistry at the Freie Universität Berlin, Dr Sass started work on IEM at the University of Innsbruck Children's Hospital. Subsequently, Dr Sass became Head of the Laboratory of Metabolism and of the Laboratory of Clinical Biochemistry and Metabolism of the University Children`s Hospital in Freiburg. Following his habilitation in Clinical Biochemistry in 2005, Dr Sass was appointed Supernumerary Professor of the Medical Faculty of the University of Freiburg in 2009. In 2012, Dr Sass became Principal Biochemist at the University of Zürich Children's Hospital prior to assuming his current post in 2015. His broad research interest includes the metabolism of branched-chain amino acids (with ketogenesis and ketolysis), acylation and deacylation (with deficiencies of aminoacylases incl. Canavan disease).
Dr. Schuchman is The Genetic Disease Foundation Francis Crick Professor and Vice Chairman for Research in the Department of Genetics & Genomic Sciences of the Icahn School of Medicine at Mount Sinai in New York. His laboratory has been studying the biology of lysosomal enzymes and storage diseases for over 30 years. He has published over 200 peer-reviewed scientific auricles and 100 book chapters and invited reviews on these subjects, and his research has been continuously funded by the National Institutes of Health, including a MERIT award for his work on Types A and B Niemann-Pick disease. Among his accomplishments are the development of the first enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD; Types A & B Niemann-Pick disease) and Farber disease (acid ceramidase deficiency), and repurposing of acid ceramidase for its use in Cystic Fibrosis and other diseases. He is an inventor on numerous patents and has received several awards for his research.
Ida Vanessa D. Schwartz, MD, PhD, held residency in Medical Genetics at the Medical Genetics Service of the Hospital de Clínicas of Porto Alegre (SGM-HCPA) - Brazil, and a master's and doctorate degree in lysosomal diseases, with a sandwich PhD at the Willink Biochemical Genetics Unit (Manchester, UK). She is currently the coordinator of the Gaucher Disease and Inborn Errors of Metabolism (IEM) Clinics (Small Molecules) of SGM-HCPA, coordinator of the Residency Program in Medical Genetics at SGM-HCPA, and a professor of genetics and clinical genetics at the Faculty of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS) - Brazil. She is the author of more than 100 indexed articles, all in the IEM area, and an affiliated member of the Brazilian Academy of Sciences.
Washington, DC, USA - Marshall Summar is Chief of the Division of Genetics and Metabolism and the Margaret O'Malley Chair of Molecular Genetics at Children's National Medical Center. He is an international expert in inborn errors of metabolism particularly those in the urea cycle. His research involves translational studies taking basic molecular genetics research and developing direct clinical applications. He also is the Director for the NIH sponsored Clinical Research Center at Children's National. He is one of the founding investigators of the Urea Cycle Disorders Consortium and works with international coordination of its efforts. Dr. Summar is board-certified in pediatrics, clinical genetics, and biochemical genetics.
Dr Michel Tchan is a Clinical Geneticist at Westmead Hospital and Senior Lecturer in Genetic Medicine at the University of Sydney. His main area of clinical and research interest is in adults with rare inborn errors of metabolism, particularly the lysosomal storage disorders, and other Mendelian genetic conditions. He runs the NSW statewide service for adults with genetic metabolic disorders, with clinics held at Westmead Hospital, Prince of Wales Hospital and Hunter Genetics.
Clara van Karnebeek, MD PhD is a principle investigator and pediatrician-biochemical geneticist at the Academic Medical Centre, Amsterdam NL, and an affiliate Associate Professor, University of British Columbia Vancouver CA. Clara's research is dedicated to promoting early diagnosis and treatment of neurometabolic diseases in intellectual developmental disorder patients. She holds major research grants and her international TIDEX team integrates genomic and metabolomics technologies to unravel neurometabolic phenotypes, discovering novel genetic conditions and changing management. She focuses on digital apps, pyridoxine-dependent epilepsy and phenotypic modifiers of neurodegenerative disease.She published over 90 peer-reviewed journal articles, multiple clinical guidelines and several chapters in neurology textbooks. Her contributions to research and clinical care have been recognized ao by the Canadian Organization for Rare Diseases, and Institutes for Health Research.
I graduated as a dietitian in 2009 and as a clinical epidemiologist in 2011. I work as a dietitian since 2009 and specialized in pediatrics and metabolic diseases from 2010 onwards. Starting in 2013 I worked for 3.5 years as the project assistant in the development of European PKU guidelines. Sinds 2017 I started my PHD in Phenylketonuria.
Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has served on numerous national/international scientific boards including the Advisory Committee (to the Secretary of HHS) on Heritable Disorders in Newborns and Children. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM) and serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics Therapeutics Committee. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.
Medical Doctor at Federal University of Rio Grande do Sul (UFRGS) (1973), residency in Internal Medicine at the University Hospital of Porto Alegre, Ph.D. in Basic Sciences at the University of Newcastle Upon Tyne, England (1982) and post docs in London (1986-1987), Heidelberg, Germany (1993), and New Haven, USA (1995). Full Professor of Biochemistry UFRGSl, full member of the Brazilian Academy of Sciences, Associate Editor of Biochem Byophys Reports and the Journal of Inborn Errors of Metabolism and Screening, member of the editorial board of Neurotoxicity Research and the Brazilian Journal of Medical and Biological Research, former president of SBBq (2012-2014), a reviewer of more than four dozen foreign journals in the field of biochemistry, genetics and neurosciences. Topic of research; Metabolic Hereditary Diseases; Investigation of the toxicity of aninoa cids and carboxylic acids accumulating in organic acidemias, fatty acid oxidation disorders and aminoacidopathies
Ronald J.A. Wanders studied Chemistry, specialized in Biochemistry and did his PhD on mitochondrial metabolism under supervision of Prof. Dr. Joseph M Tager at the E.C. Slater Institute for Biomedical Research at the University of Amsterdam. Thereafter he accepted a position as postdoctoral fellow in the Department of Clinical Chemistry and Pediatrics and started to work on metabolic diseases, notably Zellweger syndrome. He was appointed assistant Professor in 1988, associate Professor in 1991 and full Professor in 1996. He is Head of the Laboratory Genetic Metabolic Diseases since 2003. He has received many Awards, predominantly for his work on metabolism and peroxisomes which includes the IFCC 2011 Award, the Komrower 2012 Award and the Hamdam Award 2012 for Excellence in Medical Sciences in 2012. He has participated in five different EU-projects as full partner and project leader. His field of expertise is metabolism, metabolomics, and peroxisomal and mitochondrial disorders.
Professor Bridget Wilcken graduated in medicine from Edinburgh University. She has over 40 years' experience in the investigation and treatment of patients with inborn errors of metabolism. Until 2012 she was Clinical Director of the New South Wales Biochemical Genetics and Newborn Screening Services at the Children's Hospital at Westmead, Sydney, and is currently a part-time metabolic physician at Sydney Children's Hospital. Research has been mainly in the general area of newborn screening, especially screening for cystic fibrosis and expanded screening by tandem mass spectrometry. She is former President of the Human Genetics Society of Australasia, the International Society for Neonatal Screening (ISNS), and the Australasian Society for Inborn Errors of Metabolism. She has been awarded the Order of Australia and the Guthrie Medal of the ISNS for services to newborn screening.
Clinical Associate Professor Veronica Wiley is the Director of the NSW Newborn Screening Programme, Australia. She has wide ranging responsibilities covering all aspects of newborn screening practice. She is a scientist with over 40 years of experience in paediatric biochemistry especially screening, detection, diagnosis and monitoring of inborn errors using techniques including immunoassay, mass spectrometry, enzyme assays and various DNA variant analyses. She has particular interests in data storage and retrieval and the use of tandem mass spectrometry in newborn screening. A/Prof Wiley is the past President of the International Society for Neonatal Screening (ISNS) and is an active member of several other professional societies including the AACB, ASIEM, HGSA and the RCPA; she has been awarded fellowship of the HGSA and RCPA; is a member of committees for HGSA, ASIEM and ISNS. She is requested to provide presentations on a large number of topics associated with Newborn Screening.
Dr. Zanlungo´s group (Department of Gastroenterology, School of Medicine, PUC) has been focused in the study of the molecular and cellular mechanisms involved in cholesterol intracellular transport in physiological and pathological conditions. Her group is particularly interested in studying the role of the cholesterol transport-related Niemann Pick C (NPC) proteins, NPC1 and NPC2, in neurons and hepatic cells. She is specifically interested in studying cholesterol transport in the liver and the relevance of NPC proteins in oxidative stress and copper metabolism, liver damage, fibrosis and apoptosis. In the CNS, she is studying the connection between cholesterol transport defects, stress response and apoptosis of cerebellar neurons. In the last years Dr. Zanlungo´s group has been deeply exploring the cellular and molecular bases of Niemann Pick type A, B and C lysosomal diseases searching for new therapeutic targets.
(25 min presentation + 5 min questions for each topic)
Chair: R Giugliani (Porto Alegre, Brazil)
Co-chairs: J Campistol (Barcelona, Spain), A Ribes (Barcelona, Spain) & A Inwood (Brisbane, QLD, Australia)
14:00 – 14:30 Opening Ceremony
14:30 – 15:00 IEM in the Era of Genomic Medicine (J Christodoulou, Melbourne, VIC, Australia)
15:00 – 15:30 The link between rare and common diseases (S Pena, Belo Horizonte, Brazil)
15:30 – 16:00 Rare Diseases and Challenges to Health Care (JF Cabello, Santiago, Chile)
Chair: M Summar (Washington, DC, USA)
Co-chairs: B Fowler (Basel, Switzerland) & H Ida (Tokyo, Japan)
16:30 – 17:00 Bioinformatic tools in IEM: genotype-phenotype correlation and prediction (C van Karnebeek, Vancouver, Canada)
17:00 – 17:30 One gene, many faces - the many phenotypes of POLG disease (R Naviaux, San Diego, CA, USA)
17:30 – 18:00 One phenotype, several diseases – The SMA case (E Schuchman, New York, NY, USA)
Chair: G Salomons (Amsterdam, Netherlands)
Co-chairs: David Begley (London, UK) & JF Cabello (Santiago, Chile)
09:00 – 09:30 Unanticipated links between rare and common diseases: insights from Niemann-Pick type C disease (F Platt, Oxford UK)
09:30 – 10:00 Soluble Carrier Transporters (G Salomons, Amsterdam, Netherlands)
10:00 – 10:30 Gene Therapy in IEM (C P Venditti, Washington, DC, USA)
Chair: N Blau (Heidelberg, Germany)
Co-chairs: B Wilcken (Sydney, NSW, Australia), M Saborio (San Jose, Costa Rica)
16:15 – 16:45 Global overview of NBS (V Wiley, Sydney, NSW, Australia)
16:45 – 17:15 Is there a limit for the expansion of NBS? (S Berry)
17:15 – 17:45 Whole Genome Sequencing as a Tool for NBS (D Dimmock, San Diego, CA, USA)
Chair: C Dionisi-Vici (Rome, Italy)
Co-chairs: S McCandless (Cleveland, OH, USA) & F Endo (Kumamoto, Japan)
14:00 – 14:30 Massive Parallel Sequencing as a first line test for IEM diagnosis (WW Grody, Los Angeles, CA, USA)
14:30 – 15:00 IEM as an incidental diagnosis in the investigation with NGS (Fernando Kok, Sao Paulo, Brazil)
14:00 – 15:30 Pathogenic genotypes in healthy subjects (Andres Klein, Santiago, Chile)
Chair: Y Eto (Tokyo, Japan)
Co-chairs: J Fletcher (Adelaide, SA, Australia) / S Tomatsu (Wilmington, DE, USA)
09:00 – 09:30 Contemporary Mitochondrial Medicine (Michio Hirano, New York, NY, USA)
09:00 – 10:00 Peroxisomal Disorders (Ronald J Wanders, Amsterdam, Netherlands)
10:00 – 10:30 Overview on the development of therapies for LSDs (Lorne Clarke, Vancouver, Canada)
Chair: J Abdenur (Buenos Aires, Argentina/Orange County, CA, USA)
Co-chairs: K Bhattacharya (Sydney, NSW, Australia) / H Michelakalis (Athens, Greece)
11:00 – 11:30 Late Breaking News (3 presenters to be selected from the LBN abstracts)
11:30 – 12:00 SIMD Awards (SIMD), JIEMS Awards (SLEIMPN), Garrod Award (SSIEM)
12:00 – 12:30 Chamoles Lecture (Speaker indicated by SLEIMPN)
12:30 – 13:30 Next meetings presentations (SLEIMPN, SIMD, ASIEM, JSIMD, SSIEM, ICIEM)
September 5 (9:00-12:30)
Chair: A van Wegberg (Nijmegen, Netherlands)
Co-chair: V Cornejo (Santiago, Chile)
09:00 – 09:10 Introduction (A van Wegberg,Nijmegen, Netherlands)
09:10 – 09:45 From newborn screening to genomics. Changing style of dietary management (R Singh, Atlanta, GA, USA)
09:45 – 10:15 Arginine supplementation in glutaric aciduria type 1 - particularly emergency management (S Kölker, Heidelberg, Germany)
10:15 – 10:45 Understanding gut flora and impact in IMD conditions (I Schwartz, Porto Alegre, Brazil)
10:45 – 11:15 Coffee-Break
11:15 – 11:45 Genetically engineered probiotics for the treatment of PKU (K Durrer-Deming, Forth Worth, TX, USA)
11:45 – 12:20 Amino-acid supplementation in MMA/PA: more harm than good? Effects of medical food versus intact protein on branched-chain AA ratio (I Manoli, Bethesda, MD, USA)
12:20 – 12:30 Wrap-up (V Cornejo, Santiago, Chile)
Chair: J Vockley (Pittsburgh, PA, USA)
Co-chair: L Ghaloul-Gonzalez (Pittsburgh, PA, USA)
09:00 – 09:10 Introduction (J Vockley, Pittsburgh, PA, USA)
O9:10 – 09:50 Genetic discovery among the Plain populations x precision medicine (K Strauss, Strasburg, PA, USA)
09:50 – 10:30 Determining the Best Liver Transplant Options in IEMs (R Sindhi, Pittsburgh, PA, USA)
10:30 – 11:00 Coffee Break
11:00 – 11:40 Reduced Intensity Cord Blood or BMT for IEMs (P Szabolcs, Pittsburth, PA, USA)
11:40 – 12:20 Utilizing Natural History to Assess Outcomes for Novel Therapies (M Escolar, Pittsburgh, PA, USA)
12:20 – 12:30 Wrap-Up (L Ghaloul-Gonzalez, Pittsburgh, PA, USA)
Chair: RJ Wanders (Amsterdam, Netherlands)
09:00 – 09:10 Introduction (RJ Wanders (Amsterdam, Netherlands)
09:10 – 09:50 Cardiolipin and the changing face of Barth Syndrome (M Schlame, New York, USA)
09:50 – 10:30 Etherphospholipids and inborn errors of metabolism (P Brites, Porto, Portugal)
10:30 – 11:00 Coffee-Break
11:00 – 11:40 Defects in fatty acid chain elongation (F Mochel, Paris, France)
11:40 – 12:20 Lipidomics as a new tool to identify unrecognized defects in fatty acid homeostasis (B Colsch, Paris, France)
12:20 – 12:30 Wrap-up (TBC)
Co-chair: F Mochel (Paris, France) and M Tchan (Sydney, Australia)
09:00 – 10:30 (Presentation of 6 abstracts selected from the submissions)
09:00 - 09:15 Oral Presentation 01
09:15 - 09:30 Oral Presentation 02
09:30 - 09:45 Oral Presentation 03
09:45 - 10:00 Oral Presentation 04
10:00 - 10:15 Oral Presentation 05
10:15 - 10:30 Oral Presentation 06
Chair: C Vianey-Saban (Lyon, France)
11:00 – 11:20 What is ERNDIM (B Fowler, Basel, Switzerland)
11:20 – 11:50 Practical Relevance of Measurement Uncertainty in IEM (J Bonham, Sheffield, UK)
11:50 – 12:05 The role of ERNDIM in the MetaBERN (V Kozich, Prague, Czech Republic)
12:05 – 12:30 Targeted NGS for NBS of IEM in UK: a pilot experience (J Bonham, Sheffield, UK)
PA1 - PEROXISOMAL DISORDERS/ THERAPIES FOR THE CNS
Co-chair: H Amartino (Buenos Aires, Argentina)
11:00 – 11:05 Opening/Introduction
11:05 – 11:30 Overview/Update: Stephen Kemp (Amsterdam, Netherlands)
11:30 – 11:45 Oral presentation 07 – selected from abstracts
11:45 – 12:00 Oral presentation 08 – selected from abstracts
12:00 – 12:15 Oral presentation 09 – selected from abstracts
12:15 – 12:30 Oral presentation 10 – selected from abstracts
PA2 – IEM IN DEVELOPING REGIONS (OVERVIEW)/ BIOMARKERS
Chair: Pascale Karam (Beirut, Lebanon)
Co-chair: Silvana Zanlungo (Santiago, Chile)
11:00 – 11:05 Opening/Introduction
11:05 – 11:30 Overview/Update: M AlSayed (Riyhad, Saudi Arabia)
11:30 – 11:45 Oral presentation 11 – selected from abstracts
11:45 – 12:00 Oral presentation 12 – selected from abstracts
12:00 – 12:15 Oral presentation 13 – selected from abstracts
12:15 – 12:30 Oral presentation 14 – selected from abstracts
PA3 – POPULATION MEDICAL GENETICS AND IEM
Chair: Michael Beck (Mainz, Germany)
Co-chair: Angelina Acosta (Salvador, Brazil)
11:00 – 11:05 Opening/Introduction
11:05 – 11:30 Overview/Update: F Ezgu (Ankara, Turkey)
11:30 – 11:45 Oral presentation 15 – selected from abstracts
11:45 – 12:00 Oral presentation 16 – selected from abstracts
12:00 – 12:15 Oral presentation 17 – selected from abstracts
12:15 – 12:30 Oral presentation 18 – selected from abstracts
PA4 – DIETARY TREATMENT OF IEM
Chair: A van Wegberg (Nijmegen, Netherlands)
Co-chair: A Chiesa (Buenos Aires, Argentina)
11:00 – 11:05 Opening/Introduction
11:05 – 11:30 Overview/Update: V Cornejo (Santiago, Chile)
11:30 – 11:45 Oral presentation 19 – selected from abstracts
11:45 – 12:00 Oral presentation 20 – selected from abstracts
12:00 – 12:15 Oral presentation 21 – selected from abstracts
12:15 – 12:30 Oral presentation 22 – selected from abstracts
PA5 - MITOCHONDRIAL DISORDERS
Chair: N Griegersen (Copanhagen, Denmark)
14:00 – 14:05 Opening/Introduction
14:05 – 14:30 Overview/Update: Akira Ohtake (Saitama, Japan)
14:30 – 14:45 Oral presentation 23 – selected from abstracts
14:45 – 15:00 Oral presentation 24 – selected from abstracts
15:00 – 15:15 Oral presentation 25 – selected from abstracts
15:15 – 15:30 Oral presentation 26 – selected from abstracts
15:30 – 15:45 Oral presentation 27 – selected from abstracts
PA6 – FATTY ACID OXIDATION AND BRANCHED-CHAIN AMINO ACID DISORDERS
Chair: M Wajner (Porto Alegre, Brazil)
Co-chair: N Longo (Salt Lake City, UT, USA)
14:00 – 14:05 Opening/Introduction
14:05 – 14:30 Overview/Update: J Vockley (Pitisburgh, PA, USA)
14:30 – 14:45 Oral presentation 28 – selected from abstracts
14:45 – 15:00 Oral presentation 29 – selected from abstracts
15:00 – 15:15 Oral presentation 30 – selected from abstracts
15:15 – 15:30 Oral presentation 31 – selected from abstracts
15:30 – 15:45 Oral presentation 32 – selected from abstracts
PA7 – ORPHAN DRUG DEVELOPMENT: LESSONS LEARNED
Co-chair: Dafne Horovitz (Rio de Janeiro, Brazil)
14:00 – 14:05 Opening/Introduction
14:05 – 14:30 Overview/Update: M Ries (Heidelberg, Germany)
14:30 – 14:45 Oral presentation 33 – selected from abstracts
14:45 – 15:00 Oral presentation 34 – selected from abstracts
15:00 – 15:15 Oral presentation 35 – selected from abstracts
15:15 – 15:30 Oral presentation 36 – selected from abstracts
15:30 – 15:45 Oral presentation 37 – selected from abstracts
PA8 – NEWBORN SCREENING/ SCREENING TECHNOLOGIES
Chair: D Webster (Auckland, New Zealand)
Co-chair: A Fonseca (Rio de Janeiro, Brasil)
14:00 – 14:05 Opening/Introduction
14:05 – 14:30 Overview/Update: G Borrajo (La Plata, Argentina)
14:30 – 14:45 Oral presentation 38 – selected from abstracts
14:45 – 15:00 Oral presentation 39 – selected from abstracts
15:00 – 15:15 Oral presentation 40 – selected from abstracts
15:15 – 15:30 Oral presentation 41 – selected from abstracts
15:30 – 15:45 Oral presentation 42 – selected from abstracts
PA9 - TREATMENT FOR LYSOSOMAL DISEASES
Chair: P Hwu (Taipei, Taiwan)
Co-chair: L A Barrera (Bogota, Colombia)
09:00 – 09:05 Opening/Introduction
09:05 – 09:30 Overview/Update: R J Desnick (New York, NY, USA)
09:30 – 09:45 Oral presentation 43 – selected from abstracts
09:45 – 10:00 Oral presentation 44 – selected from abstracts
10:00 – 10:15 Oral presentation 45 – selected from abstracts
10:15 – 10:30 Oral presentation 46 – selected from abstracts
PA10 – MISCELANEOUS DISORDERS (INCLUDING CITRIN METABOLISM)
Chair: Stephen Cederbaum (San Diego, CA, USA)
Co-chair: M Vela (Mexico City, Mexico)
09:00 – 09:05 Opening/Introduction
09:05 – 09:30 Overview/Update: T Saheki (Kagoshima, Japan)
09:30 – 09:45 Oral presentation 47 – selected from abstracts
09:45 – 10:00 Oral presentation 48 – selected from abstracts
10:00 – 10:15 Oral presentation 49 – selected from abstracts
10:15 – 10:30 Oral presentation 50 – selected from abstracts
PA11 – PSYCHOPATHOLOGY, BRAIN ALTERATIONS AND METABOLISM
Chair: T Kozicz (New Orleans, LA, USA)
Co-chair: Andrea Schenone (Buenos Aires, Argentina)
09:00 – 09:05 Opening/Introduction
09:05 – 09:30 Overview/Update: C M Lourenço (Ribeirao Preto, Brazil)
09:30 – 09:45 Oral presentation 51 – selected from abstracts
09:45 – 10:00 Oral presentation 52 – selected from abstracts
10:00 – 10:15 Oral presentation 53 – selected from abstracts
10:15 – 10:30 Oral presentation 54 – selected from abstracts
PA12 – VITAMIN AND MICRONUTRIENTS METABOLISM
Chair: A M Martins (São Paulo, Brazil)
Co-chair: M Giovannini (Milan, Italy)
09:00 – 09:05 Opening/Introduction
09:05 – 09:30 Overview/Update: P Clayton (London, UK)
09:30 – 09:45 Oral presentation 55 – selected from abstracts
09:45 – 10:00 Oral presentation 56 – selected from abstracts
10:00 – 10:15 Oral presentation 57 – selected from abstracts
10:15 – 10:30 Oral presentation 58 – selected from abstracts
PA13 - DISORDERS OF GLYCOSILATION AND PROTEIN MODIFICATION
Chair: E Morava (New Orleans, LA, USA)
Co-chair: K Raymond (Rochester, MN, USA)
11:00 – 11:05 Opening/Introduction
11:05 – 11:30 Overview/Update: C Astegiano (Cordoba, Argentina)
11:30 – 11:45 Oral presentation 59 – selected from abstracts
11:45 – 12:00 Oral presentation 60 – selected from abstracts
12:00 – 12:15 Oral presentation 61 – selected from abstracts
12:15 – 12:30 Oral presentation 62 – selected from abstracts
PA14 – KETONE BODIES, UREA CYCLE DISORDERS AND EPIGENETICS
Chair: T Fukao (Gifu, Japan)
Co-chair: G Mitchell (Montreal, Canada)
11:00 – 11:05 Opening/Introduction
11:05 – 11:30 Overview/Update: JO Sass (Rheinbach, Germany)
11:30 – 11:45 Oral presentation 63 – selected from abstracts
11:45 – 12:00 Oral presentation 64 – selected from abstracts
12:00 – 12:15 Oral presentation 65 – selected from abstracts
12:15 – 12:30 Oral presentation 66 – selected from abstracts
PA15 – NETWORKING EXPERIENCES/ WEB PLATFORMS/ REMOTE DIAGNOSIS
Chair: T Derks (Groningen, Netherlands)
Co-chair: M Scarpa (Wiesbaden, Germany)
11:00 – 11:05 Opening/Introduction
11:05 – 11:30 Overview/Update: I Schwartz (Porto Alegre, Brazil)
11:30 – 11:45 Oral presentation 67 – selected from abstracts
11:45 – 12:00 Oral presentation 68 – selected from abstracts
12:00 – 12:15 Oral presentation 69 – selected from abstracts
12:15 – 12:30 Oral presentation 70 – selected from abstracts
PA16 – GUT MICROBIOTA AND HUMAN METABOLISM
Co-chair: Isabel Ibarra (Mexico City, Mexico)
11:00 – 11:05 Opening/Introduction
11:05 – 11:30 Overview/Update: TBC
11:30 – 11:45 Oral presentation 71 – selected from abstracts
11:45 – 12:00 Oral presentation 72 – selected from abstracts
12:00 – 12:15 Oral presentation 73 – selected from abstracts
12:15 – 12:30 Oral presentation 74 – selected from abstracts
Organizing Committee Liason: Ida D. Schwartz (Porto Alegre, Brazil)
Contact email: email@example.com
(September 3: 15:30-21:45 & September 4: 07:30-18:45)
Contact Person: Keith McIntire
Contact Email: firstname.lastname@example.org
Registration Page: www.informnetwork.org/registration.html
Click here to have an overview of the program.
Check details in the “Updated Program” section
(September 4: 08:30-18:45)
Contact Person: Gustavo Borrajo (La Plata, Argentina)
Contact Email: email@example.com
Check details in the “Updated Program” section
Link for updated programme and registration details
(September 4 – 08:30-18:00)
Contact Person: Tara Morrison (Baulkham Hills, NSW, Australia)
Contact Email: firstname.lastname@example.org
Link for updated programme and registration details: hcunetworkaustralia.org.au/patient-expert-meeting-2017
Check details in the “Updated Program” section
(September 4: 14:00-17:30)
WORKSHOP 1: Dietary treatment in MSUD, OA, UCD
WORKSHOP 2: Tools and Apps: What is out there and how does it affect our patients?
WORKSHOP 3: Criteria to keep patients under sapropterin
WORKSHOP 4: Complexity versus precision in dietary treatment
Contact Person: Annemiek van Wegberg (Nijmegen, Netherlands)
Contact Email: annemiek.vanWegberg@radboudumc.nl
Check details in the “Updated Program” section
12:45-12:50 - Welcome and Introduction
Speaker: Carolina Fischinger Moura de Souza, MD, PhD Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
12:50 - 13:10 - CLN2 Natural History and New Clinical Data
Speaker: Marina Trivisano, MD, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
13:10 - 13:35 - Insights for Early Identification and Management of CLN2
Speaker: Norberto Guelbert, MD, PhD, Hospital de Niños de Córdoba, Córdoba, Argentina.
13:35 - 13:45 - Panel Discussion
Faculty & Audience.
Co-Chairs: Jerry Vockley, MD, PhD, Pittsburgh, PA, USA & Paula Vargas, Porto Alegre, RS, Brazil.
PKU overview across the globe
Speaker: Paula Vargas, MD, PhD, Porto Alegre, RS, Brazil.
Phe levels: evolving clinical focus based on emerging data
Speaker: H. Serap Sivri, MD, Ankara, Turkey
Clinical consequences of high Phe levels: a case study
Speaker: Mina D. Nguyen, PsyD, Portland, OR, USA
Phe targets, current guidelines and evolving thinking
Speaker: Jerry Vockley, MD, PhD, Pittsburgh, PA, USA
Faculty & Audience
12:45 - 12:55 - Introduction: The need for earlier diagnosis
Speaker: Roberto Giugliani, MD, PhD, Porto Alegre, RS, Brazil
12:55 - 13:10 - My family’s journey to an MPS diagnosis
Speaker: Jennifer B. Kau, RN, BSN, Palo Alto, CA, USA
13:10 - 13:35 - MPS: Race to early diagnosis
Speaker: Frits A. Wijburg, MD, PhD, Amsterdam, The Netherlands
13:35 - 13:45 – Discussion
Faculty & Audience.
Juan Carlos Pietro, MD (Coordinator of Specialization in Medical Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia)