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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… (MMA), propionic acidemia (PA), and Niemann-Pick Disease, Type C1. His preclinical proof-of-principal studies using MMA … to develop AAV gene therapy to treat Niemann-Pick Disease, Type C1 disease, a rare and lethal inherited neurological … therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice . Life Sci Alliance . 2021. May FJ, Head PE, …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… identify statistical challenges that need to be addressed, 2) to develop new methods of genetic analysis for … are statistically valid and have reasonable power and type I error rates. Software packages developed include 1) … was discovered that there was a substantial inflation of type I error when GWAS methods were used to analyze rare …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… devastating disease, deficiency of adenosine deaminase 2. She has also worked in conjuncture with the CD22 CAR-T … AK . The spectrum of the deficiency of adenosine deaminase 2: An observational analysis of a 60 patient cohort . Front … MA, Aksentijevich I, Kastner DL, Milner JD, Ombrello AK . Type I interferon signature predicts response to JAK …
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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… ctenophore Mnemiopsis leidyi and its implications for cell type evolution. Science , 342(6164):1242592. 2013. [ PubMed ] … hematopoietic stem and progenitor cells. PLoS Biology, 2:2183-2190. 2004. [ PubMed ] Instructional Videos Current …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… activation on end-organ mitochondrial metabolism; and 2) the role of mitochondria in immune cell function. Immune … combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening … transfer rescues a lethal murine model of citrullinemia type 1. Gene Ther, 20:1188-1191 . 2013. [ PubMed ] McGuire, …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… DB, Schwartzberg PL. The TCF1-Bcl6 axis counteracts type I interferon to repress exhaustion and maintain T cell … of post-vaccination responses . Cell . 2014 Apr 10;157(2):499-513. *co-corresponding authors Gomez-Rodriguez J, …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Sciot, C.G. Bönnemann. Predominant fiber atrophy and fiber type disproportion in early Ullrich disease. Muscle & Nerve , … Darras, L.M. Kunkel. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… lineages and eventually become committed to one single type of cell that ultimately enters the blood circulation. … stem cells contain high levels of mRNA for c-kit, GATA-2, p45NF-E2 and c-myb, and low levels or no mRNA for c-fms …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… where she then continued as a Senior Staff Fellow for 2 years. In 2007, she joined Dr. Daniel Kastner’s group that … subunit mutations in CANDLE/PRAAS patients promote type I IFN production . J Clin Invest . 2015 Nov … E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease . Hum Mutat . 2000: 15(2):181-8. …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… hyperactivity disorder . Mol Psychiatry . 2023 Feb;28(2):792-800. doi: 10.1038/s41380-022-01844-9. Epub 2022 Nov …