Dr. Jerry Schneider has dedicated his career to research on metabolic disease, with an emphasis on cystinosis, to improve the lives of patients with this disease.  Dr. Schneider earned his M.D. from Northwestern University, with postgraduate training at Johns Hopkins Hospital, the National Institutes of Health (NIH), and the Centre de Genetique Moleculaire, Gif-sur-Yvette, France. He also spent two years at the Imperial Cancer Research Fund Laboratories in London, first as a Guggenheim Fellow and then as a Fogarty Senior Fellow.
Dr. Schneider began studying cystinosis in 1965 as Clinical Associate at the NIH, and became a leader in cystinosis research after joining the faculty at the University of California, San Diego (UCSD) in 1970.   Cystinosis is an "orphan" metabolic disease affecting about 500 people - mostly children - in the United States and approximately 2,000 worldwide. Individuals with cystinosis lack a transporter to remove the amino acid cystine from lysosomes in all the body’s cells. Accumulation of cystine slowly damages all the organs in the body including the kidneys, liver, eyes, muscles and brain.  In 1976 Dr. Schneider’s laboratory reported that cyteamine removed cystine from cultured cystinotic skin fibroblasts and from leukocytes in a cystinosis patient. Dr. Schneider’s lab then developed cysteamine therapy, the first treatment to remove the buildup of cystine.  This breakthrough gave incredible hope to children and adults with cystinosis, greatly improving their quality of life.  Unfortunately, cysteamine is not a cure, and must be taken every six hours to work effectively.
With funding from the Cystinosis Research Foundation, Dr. Schneider has worked with Dr. Ranjan Dohil at UCSD to create an enteric coated, delayed-release form of cysteamine, which was licensed to Raptor Pharmaceuticals Corp. in 2007.  EC Cysteamine cuts the patient’s dosing frequency from every six hours to twelve hours, improving compliance, reducing side effects, and most importantly allowing children and their families a full night’s sleep.  The active ingredient in EC Cysteamine has also demonstrated potential in clinical studies as a treatment for Huntington’s Disease, Batten Disease, and NASH (fatty liver disease).
Dr. Schneider has been a tireless advocate for the cystinosis community for more than 35 years, serving as the chair of our Scientific Review Board.  His leadership and dedication have been invaluable in recruiting, training and mentoring many other cystinosis researchers whose work is now bringing us ever closer to a cure.  He has twice chaired the International Cystinosis Research Symposium, fostering the sharing of cystinosis research and collaboration among top scientists worldwide.  With heartfelt thanks we acknowledge Dr. Schneider’s many contributions to the cystinosis community.