Abstract
Cystinosis is a rare lysosomal storage disease that is tightly linked with the name of the American physician and scientist Dr. Jerry Schneider. Dr. Schneider (1937–2021) received his medical degree from Northwestern University, followed by a pediatrics residency at Johns Hopkins University and a fellowship in inherited disorders of metabolism. He started to work on cystinosis in J. Seegmiller’s laboratory at the National Institutes of Health (NIH) and subsequently moved to the UC San Diego School of Medicine, where he devoted his entire career to people suffering from this devastating lysosomal storage disorder. In 1967, Dr. Schneider’s seminal Science paper ‘Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis’ opened a new era of research towards understanding the pathogenesis and finding treatments for cystinosis patients. His tremendous contribution transformed cystinosis from a fatal disorder of childhood to a treatable chronic disease, with a new generation of cystinosis patients being now in their 40th and 50th years. Dr. Schneider wrote a fascinating ‘Personal History of Cystinosis’ highlighting the major milestones of cystinosis research. Unfortunately, he passed away before this manuscript could be published. Fifty-five years after his first paper on cystinosis, the ‘Personal History of Cystinosis’ by Dr. Schneider is a tribute to his pioneering discoveries in the field and an inspiration for young doctors and scientists who have taken over the torch of cystinosis research towards finding a cure for cystinosis.
Highlights
When people write about the history of cystinosis, they usually start with Emil Abderhalden, who in 1903 described cystine crystals in the liver and spleen at the autopsy of a 21-month-old child [1]
Cystine accumulates within cells [2], while in cystinuria, the cystine content of cells is normal, but the cystine concentration is elevated in the urine to such a degree that cystine can come out of solution and form cystine stones within the urinary tract [3]
In 1987, we reported the success of cysteamine in treating cystinosis [17]
Summary
When people write about the history of cystinosis, they usually start with Emil Abderhalden, who in 1903 described cystine crystals in the liver and spleen at the autopsy of a 21-month-old child [1]. We knew that cystinosis patients had cystine crystals in most of their tissues They had delayed growth, very large urine volume, developed rickets and excreted excessive glucose and protein in their urine. The physician who studied cystinosis in Seegmiller’s laboratory was Joe Schulman He found that the excess cystine in cystinotic tissue was located in the lysosomes of the cells. Since each assay took 8 h, we could only perform three cystine assays a day on our one amino acid analyzer (I had to come to the laboratory each evening at midnight to start the third measurement.) I learned that a biochemist (Clement Furlong) at the University of California Riverside was isolating proteins from the bacteria E. coli that had the property of binding small molecules and that there was a cystine-binding protein. For many years this assay was the “gold standard” for measuring intracellular cystine
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