A Personal History of Cystinosis by Dr. Jerry Schneider

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.

Keywords: cystinosis; history; lysosomal storage disorder; treatment strategies for cystinosis.

Figure 1

Cystine crystals seen in an unstained bone marrow aspirate obtained from a child at 10 weeks of age. (Phase Optics. ×1280) [6].

Figure 2

Structures of compounds mentioned in this article. The two compounds shown on the upper left are sulfhydryls because they have a -SH group. The compounds to their right are disulfides. The compound at the bottom is a mixed disulfide of two different compounds.

Figure 3

Lysosomes from cystinosis patients (x), their parents (open symbols) and normal controls (filled symbols) were loaded with cystine, and the initial velocity of cystine egress was compared [20].