Stanley Nelson, M.D.
A Short Biography:
Stanley F. Nelson, MD is a board certified pediatrician with specific experience with Duchenne muscular dystrophy and rare diseases. He graduated from University of Michigan with a BS in Physics in 1982. Graduated from Duke University School of Medicine in 1987, and subsequently trained in Pediatrics and Pediatric Hematology-Oncology at UCSF. He completed postdoctoral fellowship at Stanford University in 1993 before joining the faculty at UCLA. He is Professor of Human Genetics, Pediatrics, Neurology and Pathology and Laboratory Medicine at the David Geffen School of Medicine at UCLA where he has been faculty since 1993. He is Co-Director of the Clinical Genomics Center, which develops and implements clinical genomic testing and established clinical exome sequencing at UCLA. He is a PI of the Undiagnosed Diseases Network at UCLA which performs discovery of new rare diseases. He is Founder and Co-Director of the Center for Duchenne Muscular Dystrophy which is a multi-investigator program encompassing graduate and undergraduate education, basic and translational research, clinical care, and clinical trials for Duchenne at UCLA. Within the CDMD, he is the Director of the UCLA Certified Duchenne Care Center. His laboratory has published over 280 manuscripts including new analyses of the natural history of Duchenne muscular dystrophy and novel therapeutic strategies. With the UCLA team, he provides care to approximately 200 Duchenne patients in clinic or in clinical trials and is expanding efforts to further improve rare disease diagnosis and translation to novel therapeutics.
- UCLA Professor In-Residence
- Human Genetics Director, DNA Microarray Technology
- Co-Director, Center for Duchenne Muscular Dystrophy Education
Duchenne muscular dystrophy
I lead the Center for Duchenne Muscular DYstrophy which coordinates activities to improve clinical care, clinical trials, education and research related to DMD and serve as a paradigm for progress in rare disease. Show Technical Interest
Stanley F. Nelson, MD is Professor and Vice Chair of Human Genetics and Professor of Psychiatry within the David Geffen School of Medicine at UCLA where he has been on faculty since 1993. Prof. Nelson attended the University of Michigan and obtained a BS degree in Physics in 1982. He graduated from Duke University School of Medicine in 1987 and completed an ITT International Fellowship to Sweden in the Laboratory of George Klein. He was trained in Pediatrics and Pediatric Hematology-Oncology at UCSF School of Medicine, and subsequently trained as a postdoctoral fellow with Patrick Brown from 1990-1993 where he developed genomic mismatch scanning and initiated the lab development of DNA microarrays for genomic applications. At UCLA, Prof. Nelson has continued to be interested in technology development and application of genomics to cancer biology and common human diseases with active research areas in Autism, ADHD, vertigo and brain cancers. He developed and led the first genomics core on UCLA campus ( UCLA DNA Microarray Facility). He led the whole genome expression array analysis for the NIH Neuroscience Blueprint. With a team in Pathology and Pediatrics, he implemented whole exome sequencing for clinical purposes in 2011. He formed the Center for Duchenne Muscular Dystrophy in 2007 with Drs. Miceli and Spencer that has grown into a unique center that provides coordinated patient care, access to clinical trials, translational and basic research, and educational opportunities on campus. In 2014, he initiated with others, the Undiagnosed Diseases Network UCLA Clinical Site to improve diagnosis of individuals with difficult to diagnose genetic disorders. His laboratory continues to develop and use genomic techology to pursue biological insights that lead to new therapeutic interventions in humans.
A selected list of publications:
- Strom Samuel P, Lee Hane, Das Kingshuk, Vilain Eric, Nelson Stanley F, Grody Wayne W, Deignan Joshua L Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory Genetics in medicine : official journal of the American College of Medical Genetics, 2014; 15(1): .
- Freedman Adam H, Gronau Ilan, Schweizer Rena M, Ortega-Del Vecchyo Diego, Han Eunjung, Silva Pedro M, Galaverni Marco, Fan Zhenxin, Marx Peter, Lorente-Galdos Belen, Beale Holly, Ramirez Oscar, Hormozdiari Farhad, Alkan Can, VilÃ Carles, Squire Kevin, Geffen Eli, Kusak Josip, Boyko Adam R, Parker Heidi G, Lee Clarence, Tadigotla Vasisht, Siepel Adam, Bustamante Carlos D, Harkins Timothy T, Nelson Stanley F, Ostrander Elaine A, Marques-Bonet Tomas, Wayne Robert K, Novembre John Genome sequencing highlights the dynamic early history of dogs PLoS genetics, 2014; 10(1): e1004016.
- Nathanson David A, Gini Beatrice, Mottahedeh Jack, Visnyei Koppany, Koga Tomoyuki, Gomez German, Eskin Ascia, Hwang Kiwook, Wang Jun, Masui Kenta, Paucar Andres, Yang Huijun, Ohashi Minori, Zhu Shaojun, Wykosky Jill, Reed Rachel, Nelson Stanley F, Cloughesy Timothy F, James C David, Rao P Nagesh, Kornblum Harley I, Heath James R, Cavenee Webster K, Furnari Frank B, Mischel Paul S Targeted therapy resistance mediated by dynamic regulation of extrachromosomal mutant EGFR DNA Science (New York, N.Y.), 2014; 343(6166): 72-6.
- Ortube Maria Carolina, Strom Samuel P, Nelson Stanley F, Nusinowitz Steven, Martinez Ariadna, Gorin Michael B Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy BMC medical genetics, 2014; 15(1): 11.
- Babic Ivan, Anderson Erik S, Tanaka Kazuhiro, Guo Deliang, Masui Kenta, Li Bing, Zhu Shaojun, Gu Yuchao, Villa Genaro R, Akhavan David, Nathanson David, Gini Beatrice, Mareninov Sergey, Li Rui, Camacho Carolina Espindola, Kurdistani Siavash K, Eskin Ascia, Nelson Stanley F, Yong William H, Cavenee Webster K, Cloughesy Timothy F, Christofk Heather R, Black Douglas L, Mischel Paul S EGFR mutation-induced alternative splicing of Max contributes to growth of glycolytic tumors in brain cancer Cell metabolism, 2013; 17(6): 1000-8.
- Yourshaw Michael, Solorzano-Vargas R Sergio, Pickett Lindsay A, Lindberg Iris, Wang Jiafang, Cortina Galen, Pawlikowska-Haddal Anna, Baron Howard, Venick Robert S, Nelson Stanley F, MartÃn MartÃn G Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus Journal of pediatric gastroenterology and nutrition, 2013; 57(6): 759-67.
- Pickett Lindsay A, Yourshaw Michael, Albornoz Valeria, Chen Zijun, Solorzano-Vargas R Sergio, Nelson Stanley F, MartÃn MartÃn G, Lindberg Iris Functional consequences of a novel variant of PCSK1 PloS one, 2013; 8(1): e55065.
- Chang Vivian Y, Basso Giuseppe, Sakamoto Kathleen M, Nelson Stanley F Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia BMC cancer, 2013; 13(4): 55.
- Rudnik-SchÃ¶neborn Sabine, Senderek Jan, Jen Joanna C, Houge Gunnar, Seeman Pavel, PuchmajerovÃ¡ Alena, Graul-Neumann Luitgard, Seidel Ulrich, Korinthenberg Rudolf, Kirschner Janbernd, Seeger JÃ¼rgen, Ryan Monique M, Muntoni Francesco, Steinlin Maja, Sztriha Laszlo, Colomer Jaume, HÃ¼bner Christoph, Brockmann Knut, Van Maldergem Lionel, Schiff Manuel, Holzinger Andreas, Barth Peter, Reardon William, Yourshaw Michael, Nelson Stanley F, Eggermann Thomas, Zerres Klaus Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations Neurology, 2013; 80(5): 438-46.
- Ye Fei, Zhang Yibei, Liu Yue, Yamada Kazunari, Tso Jonathan L, Menjivar Jimmy C, Tian Jane Y, Yong William H, Schaue DÃ¶rthe, Mischel Paul S, Cloughesy Timothy F, Nelson Stanley F, Liau Linda M, McBride William, Tso Cho-Lea Protective properties of radio-chemoresistant glioblastoma stem cell clones are associated with metabolic adaptation to reduced glucose dependence PloS one, 2013; 8(11): e80397.
- Kerner Berit, Rao Aliz R, Christensen Bryce, Dandekar Sugandha, Yourshaw Michael, Nelson Stanley F Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways Frontiers in psychiatry, 2013; 4(6): 154.
- Yoshida-Moriguchi Takako, Willer Tobias, Anderson Mary E, Venzke David, Whyte Tamieka, Muntoni Francesco, Lee Hane, Nelson Stanley F, Yu Liping, Campbell Kevin P SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function Science (New York, N.Y.), 2013; 341(6148): 896-9.