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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. Funding is provided … to newborn screening: Acquisition and analysis of genomic datasets that expand considerably the scale of data … Events … Program Staff … The Newborn Sequencing In Genomic Medicine and Public Health (NSIGHT) program explores the …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… last year of high school, I decided to pursue a career in medicine because I found it challenging and stimulating and … that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical signs and symptoms. The … patient came to our clinic, we found their disease-causing genomic variant and looked for other patients with the same …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… The University of Alabama at Birmingham Heersink School of Medicine  Our Genetic Testing Service is in the design … to implement recommendations of GMXIV meeting regarding genomic medicine consultation: Create a consult service or … held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic …
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
… to find applications in clinical care. The field of "genomic medicine" could potentially improve patient health and … The IGNITE demonstration projects will incorporate genomic information into the electronic medical record (EMR) …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… human DNA generated by the Human Genome Project and other genomic research, scientists and clinicians have more … that treatments will be tailored to a patient's particular genomic makeup. Thus, the role of genetics in health care is … profoundly and the first examples of the era of genomic medicine are upon us. It is important to realize, however, …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… & Objectives: Employers’ perspective on preemptive genomic screening in employee wellness Moderators: Geoff … Howard McLeod (Moffitt Cancer Center) 1:15 - 1:40 p.m. Genomic Medicine Working Group Formulary: Choosing the right test …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… of the central challenges in biology is understanding how genomic variation affects genome function to influence … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the … in areas such as CRISPR technology development, genomic medicine, and genomics in historically marginalized …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… P. Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research … — and we are excited to continue our efforts to bring new genomic therapies to patients. The Metabolic Medicine Branch … Branch investigators also use cutting-edge genetic and genomic techniques to find new genes implicated in metabolic …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… of the IGNITE Network will conduct clinical trials of genomic medicine interventions. … The National Institutes of Health … the benefits, applicability and efficacy of applying genomic medicine interventions to improve management of …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… on increasing the diversity of the next generation of genomic researchers. The NHGRI Diversity Action Plan (DAP) … initiatives, including the Centers of Excellence in Genomic Science, genome-sequencing centers, and model … and to help implement and refine the practice of genomic medicine. There are extraordinary career opportunities in …