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Evolving Paradigm for Mild to Moderate Type 1 Gaucher Disease: Earlier Diagnosis and Treatment Choices

Atul Mehta, MD, FRCP, FRCPath bio

Atul Mehta, MD, FRCP, FRCPath, is Professor of Haematology and a consultant hematologist and physician at the Royal Free Hospital, in London, part of the Department of Haematology of the University College London School of Medicine.

Professor Mehta completed undergraduate instruction at Cambridge University and King's College Hospital, in London. He then trained in general internal medicine and hematology at Hammersmith Hospital (Imperial College London), and his doctorate in medicine was sponsored by the Medical Research Council. He studied molecular mechanisms underlying aplastic anemia.

As Clinical Director of one of 6 nationally designated lysosomal storage disease units, he works with a team of researchers, physicians, and nurses to develop treatments for and deliver care to patients with lysosomal storage disorders.

Professor Mehta is a senior examiner in hematology and medicine at the Universities of London and Cambridge and with the Royal College of Pathologists. He is the author of 3 books, more than 40 chapters, and more than 200 publications in peer-reviewed journals.

Gregory M. Pastores, MD bio

Gregory M. Pastores, MD, is Associate Professor of Neurology and Pediatrics at New York University (NYU) School of Medicine, in New York, and Director of the Neurogenetics Laboratory in the Department of Neurology at NYU.

He graduated from the University of Santo Tomas, in Manila, Philippines, and received training in pediatrics and genetics at Mount Sinai Medical Center, in New York, New York, and at the Mayo Clinic, in Rochester, Minnesota. He is board certified in pediatrics, clinical genetics, and clinical molecular genetics.

Dr Pastores has extensive clinical and research experience in the diagnosis and management of lysosomal storage disorders and inherited diseases that primarily afflict individuals of Ashkenazi Jewish ancestry. He has been engaged in the development and testing of treatments for Gaucher disease, Hurler syndrome, Morquio syndrome, Pompe disease, and a late (adult)-onset form of Tay–Sachs disease (GM2 gangliosidosis). His current interest lies in the molecular genetics of inherited diseases that involve the nervous system.

Neal J. Weinreb, MD, FACP bio

Neal J. Weinreb, MD, FACP, is Director of the University Research Foundation for Lysosomal Storage Diseases, in Coral Springs, Florida, and devotes his professional attention to clinical research and management of patients with lysosomal storage diseases, especially Gaucher disease, Fabry disease, and Pompe disease.

Dr Weinreb graduated summa cum laude from the State University of New York Health Science Center at Brooklyn (SUNY Downstate Medical Center). After a residency in internal medicine at Albert Einstein College of Medicine, in the Bronx, New York, and a fellowship and faculty position at Mount Sinai School of Medicine, in New York, New York, he practiced hematology and medical oncology in South Florida. Dr Weinreb now holds the academic appointments of Voluntary Associate Professor of Medicine at the University of Miami Miller School of Medicine, in Florida, and Clinical Associate Professor of Medicine (Hematology) at NOVA Southeastern University College of Osteopathic Medicine, in Davie, Florida.

Dr Weinreb became interested in Gaucher disease and other lysosomal storage diseases more than 30 years ago as a National Institutes of Health Research Associate. He demonstrated that Gaucher disease is a lysosomal storage disorder and helped formulate some of the purification procedures that eventually led to the production of Cerezyme, the standard treatment. Dr Weinreb is active in the Gaucher Registry and Fabry Registry and serves as US Southeast Regional Coordinator and Chair of the North American section of the International Collaborative Gaucher Group (ICGG) and Co-Chair of the ICGG International Board of Scientific Advisors. He also is a member of the Medical Advisory Board of the National Gaucher Foundation.

Dr Weinreb is a fellow of the American College of Physicians and a member of the American Society of Hematology, the American Society of Clinical Oncology, and the American Society of Human Genetics. He serves on the Ethics Committee of the Florida Society of Clinical Oncology. He has been honored with the Humanitarian Award by the Israel Cancer Research Fund and the "See the Light" Award by the Matthew Forbes Romer Foundation, established for education and research of children's genetic diseases of the brain.

For more information, please visit the National Gaucher Foundation at gaucherdisease.org.