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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
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… and interpret the non-random distribution of human genetic variation, as well as to understand human history and … in the genomic revolution. Branch investigators use genetic and genomic strategies to elucidate the molecular … close coordination of long-term clinical observation, genetic analysis and functional studies. MCIDGB investigators …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… findings from human patient samples that have a particular genetic disease. These findings can be specific mutations … mimic the disease in humans? By approaching the study of genetic diseases in this way, researchers can confirm that genetic changes in the gene of interest are a contributing …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… by eight NIH institutes and centers) to study the genetic components of complex disorders. In 1997 the United … through September 1998. 1994 September 30, 1994: Human genetic mapping goal achieved one year ahead of schedule. … Lecture is established. April 1995: The Task Force on Genetic Testing is established as a subgroup of the National …
Staff
Dr. Lucia Hindorff is the Lead Extramural Training Program Director in the Training, Diversity, and Health Equity Office at the National Human Genome Research Institute.
… Washington, where her research focused on cardiovascular genetic epidemiology and motivating factors for using genetic tests in clinical care. At NHGRI, Dr. Hindorff was … [ PubMed ] Wojcik GL, Graff M, Nishimura KK, Tao R, et al. Genetic Diversity Turns a New PAGE in Our Understanding of …
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
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 …
Leadership Initiatives
NHGRI's strategic planning process will establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… States Human Genome Program 1990 : Understanding Our Genetic Inheritance  Past Workshop Planning Reports December 4, 2002:  Summary of Roundtable: Genetic Patenting November 20-22, 2002: Beyond the Beginning: …
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). …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… are now available . … Genomics Research Largest-ever genetic study of autism yields new insights NIH scientists … higher maternal blood pressure to placental gene changes Genetic profile may predict chance of type 2 diabetes among …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… out in this report included the creation of physical and genetic maps of the human genome, the generation of a … study sheds light on abnormal neural function in rare genetic disorder About 14% of cerebral palsy cases may be … convalescent plasma against COVID-19 Scientists discover genetic and immunologic underpinnings of some cases of severe …