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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… Koehly is particularly interested in how genetic/genomic risk information can be used to activate network processes to … to develop effective strategies to help families cope with disease-risk information, to increase patients' willingness … to risk in families across a diverse array of disease assessments. They also are investigating the role of …
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. Dr. … He has broad interests in the genomics of inherited disease, comparative genomics, genome structure and …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first identified glucocerebrosidase as a risk factor for parkinsonism. She has spearheaded two large …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… patients with HA20 (haploinsufficiency of A20), a disease that may be associated with inflammatory liver disease and is investigating medications that will prevent … prevent caspase cleavage of RIPK1 cause autoinflammatory disease . Nature . 2020 Jan;577(7788):103-108. Ombrello AK, …
Staff
Dr. Lanata is a staff clinician in NHGRI's Genomics of Autoimmune Rheumatic Disease Section.
… Dr. Lanata joined the Genomics of Autoimmune Rheumatic Disease Section, at NHGRI. She is an expert in population … disparities. Within the Genomics of Autoimmune Rheumatic Disease Section, she leads a multi-omics translational … the environmental and genetic effects of disease risk and outcomes. In addition, as there is an unmet need to …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… cytotoxicity.  SAP and XLP: X-linked lymphoproliferative Disease (XLP) is another rare genetic disease associated with fatal responses to EBV, … Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch. … Pamela Schwartzberg, white blood …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… position as a pediatric neurologist at the NIH Undiagnosed Disease Program (UDP) and the GM1 gene therapy program led by … and extensive phenotype evaluations, neurodevelopmental assessments, the search for genetic and biological markers, … for Rare Diseases: ISCTM Position Paper of the Orphan Disease Working Group. Innov Clin Neurosci. 2024 Mar …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… Ombrello is a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the … associate research physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of … to decipher the complex and potentially devastating disease, deficiency of adenosine deaminase 2. She has also …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.