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David L. Nelson (born 1956) is an American human geneticist, currently an associate director at the Intellectual and Developmental Disabilities Research Center (1995), and professor at the Department of Molecular and Human Genetics atBaylor College of Medicine BCM since 1999. Since 2018, he is the director at the Cancer and Cell Biology Ph.D program, and the director of Integrative Molecular and Biomedical Sciences Ph.D since 2015 atBCM.^[1][2]

Nelson received a bachelor's degree from theUniversity of Virginia in 1978 and received his PhD in molecular genetics from theMassachusetts Institute of Technology in 1984. He carried out his postdoctoral training atMassachusetts Institute of Technology (1984–1985) andNational Institutes of Health before moving toBaylor College of Medicine.

Nelson joined theMIT Center for Cancer Research (CCR) group of David Housman at theMassachusetts Institute of Technology as a postdoctoral trainee (1986–1989). Nelson's work using introduced selectable genes expanded approaches to whole human genome mapping. From 1984 to 1985, in an intramuralNational Institutes of Health program at the laboratory of Robert Lazzarini, Nelson studied neuroscience and defined genes encoding neurofilament proteins. In 1986 he joined the C. Thomas Caskey laboratory at the Institute of Molecular Genetics,Baylor College of Medicine.^[3]

ApplyingPCR, a technique that allows rapid gene mapping and isolation of specific chromosomal regions, Nelson et al. identified chromosomal locations of large fragments of the humanX chromosome;^[4] Nelson contributed to the human, mouse and fly reference sequences and was a co-discoverer of the mutation that causesFragile X syndrome as an expansion of a trinucleotide repeat in theFMR1 gene.^[5] Nelson's contributions have led to the description ofLowe syndrome,^[6] and the identification ofFMR2 for FRAXE syndrome.^[7]

Nelson's molecular techniques led to the development of genome mapping and sequencing and discovery of disease genes, contributing efforts to map and sequence of the human X chromosome. He was a leader in genetic and genomic analyses across all species.^{[4][8][9][10]}

With a group of international collaborators, Nelson's research group was able to identify a recurrent, homology-driven deletion in theNEMO gene inIncontinentia pigmenti (IP), an X-linked genetic disease.^{[11][12][13][14][15]}

Nelson and other collaborators atBMC,Emory University, andErasmus University Rotterdam identified a massive expansion of CGG repeat (Trinucleotide repeat disorder) inFMR1. This was the first to be identified as the underlying mutations in human genetic disorders. Their findings inFMR1 explained the unusual inheritance inFragile X syndrome and provided the principles for all subsequent unstable repeat disorders such asmyotonic dystrophy,Huntington's disease, andamyotrophic lateral sclerosis.^{[5][16][17][18]}

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 ofFMR1 and relatedFXR1 andFXR2. Nelson and his research group have defined roles forFMR1 and paralogs in circadian rhythm, energy metabolism, neuronal stem cell development, andmicroRNA function. Their research results are being used in research to define the role ofFMR1 in development and potential treatment for these diseases in adulthood.^{[19][20][21][22][23]}

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 theCGG 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 asTDP-43 and alterations in5-Hydroxymethylcytosine.^{[24][25][26][27]}

Nelson is a member of the Board of Directors of theAmerican 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, includingAmerican Journal of Human Genetics,Mammalian Genome,Clinical Genetics (journal), andGenome Research.

6824972. Diagnosis and treatment of medical conditions associated with defectiveNFkappa B (NF-κB) activation.^[28]

6107025. Diagnosis of the fragile X syndrome.^[29]

• Fellow,American Association for the Advancement of Science (2014)
• Barbara Bowman Distinguished Geneticist, Texas Genetics Society (2010)^[30]
• Leadership Award,Huntington's Disease Society of America (2000)^{[citation needed]}
• William Rosen Award, National Fragile-X Foundation (2000)^{[citation needed]}

• 1956 births
• University of Virginia alumni
• Massachusetts Institute of Technology alumni
• Baylor College of Medicine faculty
• Baylor College of Medicine alumni
• Fellows of the American Association for the Advancement of Science
• American geneticists
• Living people
• American Journal of Human Genetics editors

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