was the first to be identified as the underlying mutations in human genetic disorders. Their findings in FMR1 explained the unusual inheritance in Fragile X syndrome and provided the principles for all subsequent unstable repeat disorders such as myotonic dystrophy, Huntington's disease, and amyotrophic lateral sclerosis. FMR1 in neuronal function By studying humans, mice, flies and yeast Nelson's research group has characterized the origins of instability in the repeat, the consequences of "premutation" length expansions, and the function of FMR1 and related FXR1 and FXR2. Nelson and his research group have defined roles for FMR1 and paralogs in circadian rhythm, energy metabolism, neuronal stem cell development, and microRNA function. Their research results are being used in research to define the role of FMR1 in development and potential treatment for these diseases in adulthood. Fragile X tremor ataxia syndrome (FXTAS) FXTAS individuals are cognitively unaffected until they reach their 60 or 70, when they show neural degeneration and nuclear inclusions during autopsy. Nelson's research group has used flies and mice to identify and characterize modifiers that showed that the CGG repeat is necessary and sufficient to affect mammalian neurons. Models developed by Nelson's research group have improved the understanding of mechanisms of this disease, including a role for RNA-binding functions such as TDP-43 and alterations in 5-Hydroxymethylcytosine. Public service Nelson is a member of the Board of Directors of the American Society of Human Genetics, was its President in 2018, and served as Secretary from 2003 to 2009. Nelson has served in many advisory boards and committees, including FRAXA Research Foundation Advisory Board (1999–present), National Fragile X Foundation Advisory Board (1999–present), March of Dimes Grants Review Board (2010–2015), Hungtinton Disease Society of America Steering Committee (1999–2010), United States NIH/NICHD Mental Retardation Review Committee (1998–2002), and US DOE Joint Genome Institute Advisory Board (1997–2000). Nelson served on the editorial boards of eleven academic journals, including American Journal of Human Genetics, Mammalian Genome, Clinical Genetics (journal), and Genome Research. Patents 6824972. Diagnosis and treatment of medical conditions associated with defective NFkappa B (NF-κB) activation. 6107025. Diagnosis of the fragile X syndrome. Awards and honors Fellow, American Association for the Advancement of Science (2014) Barbara Bowman Distinguished Geneticist, Texas Genetics Society (2010) Leadership Award, Huntington's Disease Society of America (2000) William Rosen Award, National Fragile-X Foundation (2000) References 1956 births University of Virginia alumni Massachusetts Institute of Technology alumni Baylor College of Medicine faculty