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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. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… pan-genome is quite large with 80% core genes (~2,000 total) and the remaining 20% of genes selected from a … of the human skin microbiome. Science , 324(5931):1190-2. 2009. [ PubMed ] Grice EA, Kong HH, Renaud G, Young AC; …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Tay-Sachs and Sandhoff diseases, GM1 gangliosidosis and type 1 sialidosis.  In May 2019 Dr. Tifft and her “all-woman … first-in-human gene therapy trial for patients with Type I and Type II GM1 gangliosidosis. Connecting with desperate …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… III) Experience. Journal of Personalized Medicine 8, 2; doi:10.3390/jpm8010002. 2018. [ PubMed ] Nadkarni GN, … coronary heart disease in postmenopausal women with diabetes: the women's health initiative observational study." … R Li, J Zmuda, TB. Harris. Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are associated with …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart's research focuses on neurofibromatosis type 1 (NF1), a common, monogenic disorder that dramatically … from which malignant peripheral nerve sheath tumors, a type of soft-tissue sarcoma, arise. Dr. Stewart is also the … to polycystic ovary syndrome on chromosome 19p13.2 and tests for regulatory activity. Journal of Clinical …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… as the Clinical Director of the Neurofibromatosis type 1 (NF1) Program and as an associate professor at George … Baker E, Vézina G, Thurm A, Tifft CJ . GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study . medRxiv … GM1 gangliosidosis patients. Mol Genet Metab. 2023 Feb;138(2):107508. doi: 10.1016/j.ymgme.2023.107508. Epub 2023 Jan …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… production being functionally linked in the same cell type of a given organism, a finding that may shed new light … attractive for study is that they possess a specific type of interstitial cell (or i-cell ) that is pluripotent, … Ctenophore Mnemiopsis leidyi and its Implications for Cell Type Evolution. Science, 342:1242592. 2013. [ PubMed ] …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… for Alagille syndrome and multiple endocrine neoplasia type 1. His current efforts are centered on the genetics and … of the gene responsible for multiple endocrine neoplasia type 1 (MEN1), a condition characterized by tumors primarily … WL, de Jong PJ, Collins FS, Chandrasekharappa SC. A 2.8-Mb clone contig of the multiple endocrine neoplasia type …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… as the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science research with … NPC1, whose mutation results in Niemann-Pick disease, type C1. … The Genomics, Development and Disease Section … by genetic background. Pigment Cell Melanoma Res . 28(2):223-8. 2015. [ PubMed ] Fufa TD, Harris ML, Watkins-Chow …
Staff
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
… discordant for parkinsonism . Mov Disord 2020 Feb; 35(2):359-365. Lopez G , Eisenberg DP, Gregory MD, Ianni AM, … E, Lopez G . Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series . Mov Disord Clin … Gaucher disease and parkinsonism . Neurol Genet 2016 Mar 4;2(2):e57. … Biography … Scientific Summary … Publications … …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… of a perinatal lethal form of GD, skin changes in type 2 GD, and the role of GCase in epidermal barrier function. … learning disability was identified among patients with type 3 GD. Based upon analyses of GBA sequences from …