Review Committee 2022

Chairman: Robert J. Desnick, Ph.D., M.D., Dean of Genetic and Genomic Medicine, Professor and Chair Emeritus Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.

Robert J. Desnick, Ph.D.

Icahn School of Medicine at Mount Sinai Mount Sinai Health System, New York, NY

Robert J. Desnick is Dean for Genetic and Genomic Medicine and Professor and Chairman Emeritus of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.
In 1977, he joined the Mount Sinai faculty as the Arthur J. and Nellie Z. Cohen Professor of Pediatrics and Genetics, and Chief of Medical and Molecular Genetics. From 1993- 2011, he was the first Chairman of the Department of Genetics and Genomic Sciences at Mount Sinai. In 2011 he became the Dean for Genetics and Genomic Medicine.

Dr. Desnick’s research interests include lysosomal storage diseases (LSDs) and the inborn errors of heme biosynthesis, the porphyrias, and in particular, their treatment. His
research efforts led to the Federal Drugs Administration (FDA) - and European Medicine Agency (EMA) - approval of enzyme replacement therapy (ERT) for Fabry disease (Fabrazyme) and on-going ERT clinical trials (FDA “Breakthrough” status) for Niemann- Pick B disease, both in partnership with Genzyme. In addition, he was a scientific founder of Amicus Therapeutics (NASDAQ; FOLD), which is developing oral pharmacologic chaperone therapy for Fabry disease (EMA-approved in 2016), Pompe disease, and other disorders. Currently, his laboratory is using gene editing technology to engineer gene therapy in the mouse model of Fabry disease with Sangamo Therapeutics.

For the porphyrias, he co-developed with Alnylam Pharmaceuticals an RNAi therapy for the acute hepatic porphyrias, performed the preclinical studies, and co-designed the ongoing clinical trials. He also served as Principal Investigator for Clinuvel Pharmaceuticals’ Phase 2 and 3 multisite clinical trials of afamelanotide, a “first-in-class” synthetic peptide for the treatment of the Erythropoietic Porphyrias, which was recently EMA-approved and pending FDA approval. He also served as the Chairman of the Scientific Advisory Committee (SAC) of Synageva Biopharma and currently serves as SAC Chair for Kiniksa Pharmaceuticals. In addition, his research includes genomics, pharmacogenomics, and personalized medicine. He has published over 740 research papers and chapters, including nine edited books. He is an elected Fellow of the American Association for the Advancement of Science and an elected member of the National Academy of Medicine.

 Robert J. Desnick, Ph.D.


Andrea Giustina, M.D., Full Professor and Chair at the Institute of Endocrinology and Metabolic Sciences, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.

Andrea Giustina


Full Professor and Chair Institute of Endocrinology and Metabolic Sciences (IEMS) San Raffaele Vita-Salute University, IRCCS San Raffaele Hospital, Milan, Italy

Dr. Giustina received his Medical Degree with distinction from the University of Brescia (Italy) in 1986. From 1991 to 1994 he was in the United States as Associate Professor of Endocrinology at the University of Wisconsin, Milwaukee, and in 2002 Visiting Professor of Endocrinology, Cedars Sinai Medical Center, UCLA, Los Angeles. At the University of Brescia, he rose to become Full Professor of Internal Medicine in 2007. He moved to San Raffaele Vita-Salute University in Milan in January 2017 where he is Full Professor of Endocrinology and Metabolism and Pro Rector for Institutional and International Affairs.

He is Director of Postgraduate Program in Endocrinology and Metabolism at San Raffaele University and Head of the Division of Endocrinology at San Raffaele Hospital in Milan. Dr. Giustina has authored more than 400 original papers and made seminal contributions to our understanding of mechanisms regulating growth secretion, as well as disorders of both growth hormone deficiency and excess and bone neuroendocrinology.
He elucidated the “Giustina effect” defined as inhibition of growth hormone secretion in the absence of circulating cortisol and its reversibility when cortisol levels are
restored to normal. He also has co-authored several pituitary medicine guidelines of which those on Acromegaly criteria of cure and Cushing disease diagnosis have been
cited more than 1000 times.

He was Editor-in-Chief of Endocrine, and one Editor of Pituitary, he is President of the European Society of Endocrinology and Past President of the Pituitary Society and served on the Executive Committee of the International Society of Endocrinology. He also served on the Journal managing subcommittee of the Endocrine Society and on the Editorial Board of Journal of Clinical Endocrinology and Metabolism and Clinical Endocrinology. He is a member of the Italian Superior Health Council at the Italian Ministry of Health.

 Andrea Giustina


Shlomo Melmed, M.D., ChB, Executive Vice President of Academic Affairs, Dean of the Medical Faculty and Professor of Medicine, Cedars Sinai Medical Center, Los Angeles, CA, USA.

Shlomo Melmed

Dean of the Medical Faculty and Professor of Medicine, Cedars Sinai Medical Centre, Los Angeles, USA

Shlomo Melmed, MB, ChB, FRCP, MACP, leads Cedars-Sinai’s research and education programs, recruiting nationally recognized faculty leadership, establishing new
educational programs, and maintaining the highest academic standards. Dr. Melmed holds the Helene A. and Philip E. Hixon Distinguished Chair Investigative Medicine.
An international authority on pituitary medicine, he has pioneered the discovery and application of novel treatments for endocrine tumors and has authored more than 350
peer-reviewed articles.

Dr. Melmed has been a Faculty leader at Cedars-Sinai for nearly 40 years and has been the health system’s Chief Academic Officer since 1998. Dr. Melmed’s laboratory consistently has received competitive grant awards from the National Institutes of Health since 1980, and he has trained over 80 physicians, scientists and graduate students who occupy leading positions in academic endocrinology worldwide.

He is Editor-in-Chief of The Pituitary, editor of Williams Textbook of Endocrinology and is on the Editorial Board of the Journal of Clinical Investigation. He is also an Associate Dean of the UCLA School of Medicine. He is an elected member of the Association of American Physicians, the American Society of Clinical Investigation and the Endocrine Society Council. He served as President of the International Society of Endocrinology, President and founding member of the Pituitary Society, a member of the California Institute for Regenerative Medicine’s Independent Citizen’s Oversight Committee and serves on the California Life Sciences Association Board.

Dr. Melmed is a fellow of the American College of Physicians (ACP) and was elected to Master of the ACP. He also has been honoured with the Pituitary Society’s Lifetime Achievement Award. He has been named one of America’s top physicians and has received Cedars-Sinai’s Pioneer in Medicine Award. Other honours include the Transatlantic Medal from the Society of Endocrinology, the Endocrine Society Clinical Investigator Award, The Endocrine Society Outstanding Scholarly Physician Award, and the Royal Society of Medicine’s Clinical Endocrinology Trust Medal. Dr. Melmed earned a Bachelor of Medicine, Bachelor of Surgery (MB, ChB) with distinction from the University of Cape Town, South Africa. He is a diplomate of the American Board of Internal Medicine, certified in endocrinology and metabolism.

 Shlomo Melmed