Since the discovery of FMR1, Steve’s lab has made major contributions to our understanding of the encoded Fragile X Mental Retardation Protein (FMRP), deficiency in which is the cause of FXS. Steve’s work on CGG repeat instability and CGG repeat RNA toxicity will undoubtedly increase our understanding of these CGG repeats in the human genome. These CGG repeats could affect our genome at the DNA, RNA, and protein levels. Although Steve expected that the CGG repeat expansion at the FMR1 locus was an exception in the human genome at that time, more recent work from multiple groups has shown that polymorphic CGG repeats are more prevalent in the human genome than we previously appreciated (being found at more than 6,000 loci). The identification of the CGG repeat expansion at the fragile site as the cause of FXS led to the recognition of expansion of unstable nucleotide (microsatellite) repeats, notably trinucleotide repeats, as a previously unknown mutational mechanism underlying certain human diseases - now known to include more than 60 neurological and neuromuscular disorders. Thomas Caskey, and Ben Oostra led to the discovery of the causal gene, FMR1.
Exactly 30 years ago, his collaborative work with David Nelson, C. Steve was first introduced to fragile X syndrome during his postdoctoral training when he started developing the strategy to clone the fragile site. Throughout his career, Steve’s primary focus has been the elucidation of the molecular basis of fragile X syndrome (FXS), a common inherited cause of intellectual disability and autism, as well as fragile X-associated disorders that result in ovarian insufficiency and late-onset neurodegeneration. He was an Investigator with the Howard Hughes Medical Institute from 1991 until 2002, when he resigned to establish the Department of Human Genetics at Emory.
Steve joined the Emory University School of Medicine as an assistant professor in 1985 in the Departments of Biochemistry and Pediatrics (medical genetics) he was promoted to associate professor in 1991 and then quickly to full professor in 1993. He completed his post-graduate training in the laboratory of Richard Davidson at the University of Illinois in Chicago and European Molecular Biology Laboratory Heidelberg. Steve continued his graduate studies at Michigan State University, completing his Ph.D. He spent summers at Henry Ford Hospital in Detroit, learning clinical genetics while seeing patients. While a first-year student, he began his involvement in medical genetics by volunteering in the clinical genetics diagnostic laboratory, where he continued to work throughout his undergraduate studies and first met his wife, Karen. Born in East Detroit on 30 November 1953, Steve developed a strong interest in human genetics when he was an undergraduate student at Michigan State University.
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