In collaboration with a group at UCSF, in 2012, novel enhancers embedded in an exon of one gene, DYNC1I1, in the SHFM1 region in chromosome 7q21 was identified. Schwartz’s group identified a complex, chromosomal rearrangement in 10q24 that results in a small tandem duplication in SHFM3 patients. With respect to birth defects, a project was undertaken to identify genes responsible for ectrodactyly (split-hand/split-foot, SHFM). The purpose of the Polyamigos is to explore avenues for treatment of SRS. Schwartz was instrumental in bringing together a group of researchers, with various backgrounds and an interest in polyamine biosynthesis, to form a group named the ‘Polyamigos’. This gene converts spermidine to spermine, and affected males have an abnormally high ratio of these polyamines in their white cells. Schwartz’s group identified mutations in the spermine synthase gene (SMS) which are associated with Snyder-Robinson syndrome. Linkage was achieved in 72 of the families and 36 XLID genes were cloned, many in collaboration with groups spread throughout the world. Roger Stevenson, a senior clinical geneticist at GGC. Over 700 families were enrolled in the project, in collaboration with Dr. For the former, his laboratory concentrated on identifying genes responsible for X-linked intellectual disabilities (XLID). Schwartz’s research interests focused on the causes of intellectual disabilities and birth defects. From 1985 until his retirement in May 2019, Dr. Schwartz is an Emeritus Senior Research Scientist of the Greenwood Genetic Center (Greenwood, SC) and Chair, Medical and Scientific Advisory Board of the Snyder-Robinson Foundation.

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