Conseil Scientifique

Wendy Chung, MD PhD

Herbert Irving Assistant Professor of Pediatrics and Medicine
Director of Clinical Genetics
Columbia University
1150 St. Nicholas Avenue, Room 620
New York, NY 10032

212-851-5313 (phone)
212-851-5306 (fax)

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Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist who directs the clinical genetics program at Columbia University and performs human genetic research. She is currently the Herbert Irving assistant professor of pediatrics and medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.

Clinically, she directs programs in genetic risk assessment for cancer, cardiomyopathy, arrhythmias, and diabetes. She cares for many patients with inborn errors of metabolism and uses dietary management, enzyme replacement, and organ transplantation to treat their disease. She studies families with multiple affected family members using methods of linkage analysis, chromosome microarray, and high throughput sequence analysis to determine the underlying genetic basis of disease within families.

Dr. Chung directs a clinical molecular diagnostics laboratory and develops novel genetic tests to improve clinical testing including preimplantation genetic diagnosis to help couples have healthy children. For her contributions in this area, she received the Medical Achievement Award from Bonei Olam.

Dr. Chung directs NIH funded research programs in human genetics of complex traits such as obesity, diabetes, breast cancer, pulmonary hypertension, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She serves as the molecular genetics core for the Pediatric Neuromuscular Clinical Research Network studying spinal muscular atrophy, the New York Obesity Research Center, and the Diabetes and Endocrine Research Center. She was the recipient of the American Academy of Pediatrics Young Investigator Award. She has authored over 80 peer-reviewed articles and 20 chapters and reviews.

Dr. Chung teaches genetics across the Columbia University campus to the medical, dental, nursing, graduate, and public health students. She is the fellowship director for cytogenetics and molecular genetics. She is a member of the Glenda Garvey Teaching Academy and has won many awards for teaching including the Charles W. Bohmfalk Award for Distinguished Contributions to Teaching, American Medical Women’s Association Mentor Award, and Presidential Award for Outstanding Teaching.

Dr. Chung also lectures and writes on the legal and social issues raised by genetic testing, disparities in access to genetic care, confidentiality and privacy of genetic information, and gene patents and intellectual property. She is a member of the Columbia Center for BioEthics.

Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care an accessible and cost-effective manner that is medically, scientifically, and ethically sound.

Robert D. Steiner, MD

Oregon Health & Science University
Mail Code: CDRC
707 SW Gaines Rd
Portland, OR 97239
503-494-9177 (phone)
503-494-2781 (fax)

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Dr. Steiner is Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular & Medical Genetics, and Vice Chair for Research in Pediatrics at Doernbecher Children’s Hospital at Oregon Health & Science University (OHSU) in Portland, Oregon, USA. He earned his MD from the University of Wisconsin in Madison, and completed a residency in pediatrics at Cincinnati Children’s Hospital Medical Center in Ohio and a fellowship in medical genetics at the University of Washington and Seattle Children’s Hospital. Dr. Steiner is board certified in pediatrics, clinical genetics, and clinical biochemical genetics.

Dr. Steiner is the Principal Investigator or Co-Investigator of more than a dozen ongoing clinical trials and clinical research studies on Smith-Lemli-Opitz Syndrome (SLOS), Osteogenesis Imperfecta, Autism, and lysosomal storage diseases including Mucopolysaccharidoses, Fabry and Gaucher diseases, and Neuronal Ceroid Lipofuscinosis. His research on SLOS and related disorders is funded by the National Institutes of Health, in part by an award from the NIH Rare Disease Clinical Research Network (RDCRN) grant.

Dr. Steiner has authored more than 100 peer-reviewed original research articles, and more than 50 reviews, book chapters, and letters on rare diseases and related topics. He currently serves as an editorial board member of the Journal of Inherited Metabolic Disease and is the Deputy Editor for Genetics in Medicine and an editorial board member of Emedicine Online Pediatric Textbook. He is a reviewer for numerous journals, such as JBC, Pediatrics, Journal of Pediatrics, Pediatric Research, Molecular Genetics and Metabolism, American Journal of Clinical Nutrition, the American Journal of Medical Genetics, and many others.

Dr. Steiner is a member of several medical societies, including the American Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism, and the American Society for Biochemistry and Molecular Biology. Dr. Steiner has served as President of the Fabry International Research Exchange, Chair of the American College of Medical Genetics working group on Pompe disease, and is currently a member of the American College of Medical Genetics Therapeutics Committee. He is also a member of numerous committees and advisory boards, including the Lysosomal Storage Disease Network Steering Committee, Newborn Screening Subcommittee of the Society of Inherited Metabolic Disease, SLOS Foundation Medical Advisory Board, and Batten Disease Support and Research Association Medical/Scientific Advisory Board. He has served as a council member for the Western Society for Pediatric Research, a member of the Trainee Research Award selection committee of the Society for Pediatric Research, and as an elected member of the executive committee for the Section on Genetics and Birth Defects of the American Academy of Pediatrics. Finally, Dr. Steiner was a member of the Institute of Medicine (IOM) Committee that recently published recommendations on Accelerating Rare Diseases Research and Orphan Product Development.

In the public arena, Dr. Steiner has served as moderator and speaker for group meetings for families with Fabry, MPS, Tay Sachs, Pompe, Gaucher, and NCL among others. He and his family mentor an at-risk child, and are founding mentors of the mentorship group, Family of Friends.

Dr. Gregory M. Pastores

New York University
403 East 34th St.
Rivergate Bldg.
New York, NY 10016
212-263-8344 (phone)
212-263-8310 (fax)

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Since 1993 Dr. Pastores has been a Clinical Geneticist at NYU. He received his degree in pediatrics from the University of Santo Tomas and completed his residencies at Polymedic General Hospital (Pediatrics) and Mount Sinai Medical Center (Pediatrics). His fellowships were at Mount Sinai Medical Center (Pediatrics) and the Mayo Clinic (medical geneticist).

Dr. Pastores has held the position of Associate Professor in the Departments of Neurology and Pediatrics at NYU Neurogenetics Lab and NYU Neurology Associates since 1993.

“Our focus is on elucidation of the natural history of selected lysosomal storage disorders (LSD) and development of therapy for these conditions. We are engaged in clinical trials at the Rivergate Site, and in the Laboratory we conduct molecular and biochemical investigations to characterize the underlying gene defects and pathogenetic mechanisms associated with various LSDs.”

Sean Ekins PhD, DSc

Collaborations In Chemistry
5616 Hilltop Needmore Road
Fuquay-Varina, NC 27526
215-687-1320 (mobile)
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Sean Ekins graduated from the University of Aberdeen, where he received his M.Sc., Ph.D. and D.Sc. He is Principal Consultant for Collaborations in Chemistry and Collaborations Director at Collaborative Drug Discovery Inc. Additionally, he is Adjunct Associate Professor in the School of Pharmacy Department of Pharmaceutical Sciences at the University of Maryland and Adjunct Professor in the Department of Pharmacology at University of Medicine and Dentistry of New Jersey – Robert Wood Johnson Medical School, Piscataway, NJ.

Sean was a postdoctoral fellow at Lilly Research Laboratories in the drug disposition group (1996-1998). He has worked as a senior scientist at Pfizer (1998-1999) and Lilly Research Laboratories (1999-2001) in drug-drug interaction screening and computational ADME/Tox groups, respectively, and as Associate Director of Computational Drug Discovery at Concurrent Pharmaceuticals, Inc (2001-2004) and Vice President of Computational Biology at GeneGo (2004-2006).

Sean has authored or co-authored approximately 170 peer-reviewed papers and book chapters on computational ADME and drug discovery, as well as edited/co-edited four books: “Computer Applications in Pharmaceutical Research and Development”; “Computational Toxicology: Risk Assessment For Pharmaceutical and Environmental Chemicals” (with Xu JJ); “Drug Efficacy, Safety, and Biologics Discovery: Emerging Technologies and Tools”; and “Collaborative Computational Technologies for Biomedical Research” (with Hupcey MAZ and Williams AJ). Sean is the Reviews Editor for Pharmaceutical Research, Associate Editor of the Journal of Pharmacological and Toxicological Methods and is on the Editorial Boards of Drug Discovery Today and Mutation Research Reviews. He currently serves on the scientific advisory board for Emiliem Inc. and Assay Depot.

Sandra Catarina Conceição Alves

Centro de Genética Médica Jacinto Magalhães
Unidade de I&D, Departamento de Genética
Instituto Nacional de Saúde Ricardo Jorge (INSA)
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Sandra Alves has a PhD in Biology (Human Genetics) from the Faculty of Sciences, University of Porto. Her early research centered on Pharmacogenetics. Today, she is focused on lysosomal storage disorders (LSDs).

Since 2004, Sandra has been an Auxiliary Researcher at the National Institute of Health with Dr. Ricardo Jorge (Research and Development Unit – Department of Human Genetics) and Head of the Lysosomal Storage Diseases Research Group. Her work includes the study of variation in genes determining missorting of lysosomal proteins (via Man-6P dependent and independent pathways) and the development of innovative therapeutic approaches for LSD-causing mutations.

In recent years, she has supervised several master and PhD theses on LSDs. She is a member of the European Study Group on Lysosomal Storage Diseases and a reviewer of scientific papers for several international journals. She has authored more than 20 articles published in international scientific periodicals and more than 40 communications in scientific conferences.