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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- 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. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute. ​
… new approaches to identify the causal variant in rare genetic disorders where strategies such as whole exome … LH, Pertz LM, Broman KW, Bartolomei MS, Willard HF. Genetic control of X chromosome inactivation in mice: … , 173(4):2103-10. 2006. Chadwick LH and Willard HF. Genetic and parent-of-origin influences on X chromosome …
Staff
Mr. Ismail Safi is a program specialist in NHGRI's Division of Genome Sciences.
… the Genetics of Rare Disease Consortium (GREGoR), and the Genetic Architecture of Complex Traits project. Before … interest in pharmacogenomics, psychopharmacology, and the genetic basis of psychiatric disorders. Ismail received his …
Staff
Sheethal Jose is a program director in NHGRI's Division of Genomics and Society.
… of COVID-19; and understanding its impact on concerns of genetic determinism and biologization of race using both … Historical Studies at the Intersection of Infectious and Genetic Disease. Journal of Law, Medicine, and Ethics . 2024. …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… on the efficacy of gene therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), … system and manufacturing methods for multiple rare genetic diseases. Based on his pioneering work using AAV gene … delivery, genome editing, and mRNA therapy, to cure rare genetic disorders. The primary focus of his research has been …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… Katsanis N, Davis EE, Angrist M. Participant-Partners in Genetic Research: An Exome Study with Families of Children … M, Michie M, Chandrasekharan S. Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and … T, Cook-Deegan R, Ginsburg GS, Simmons LA. Perspectives on genetic and genomic technologies in an academic medical …
Staff
Mr. Benjamin Berkman is the deputy director of NHGRI's Bioethics Core.
… focuses on the ethical and policy issues raised by genetic research and on the way in which emerging … Professional Speech in an Era of Radically Expanded Genetic Testing. Washington and Lee Law Review (in press). …
Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
​
… Dr. Persky's research has shown that individuals apply the genetic information they encounter through online social … rise to these beliefs. She also explores how beliefs about genetic causal factors in health conditions influence health … stigma. For example, recent work found that the nature of genetic causal attributions made by individuals with diabetes …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… his career at the NIH Dan’s research has focused on using genetic and genomic strategies to understand inherited … research efforts currently focus in four major areas: the genetic analysis of monogenic disorders of inflammation, the … CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.