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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
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… Genomics … Population genomics is the application of genomic technologies to understand populations of organisms. … … Population genomics is the large-scale application of genomic technologies to study populations of individuals. For example, population genomics research can be used to …
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI. He received his medical … He is the lead associate investigator of a clinical trial for the evaluation of the efficacy of miransertib, a pan-AKT … Assessment: a visual clinical global impression scale for Proteus syndrome . Orphanet J Rare Dis . 2022;17(1):173. …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal … how their family history is associated with their risk for heritable diseases. The workbook also provides feedback … participants, the researchers plan to include community education programs in future iterations of the workbook. “Our …
News Release
NHGRI marks its fourteenth annual National DNA Day by organizing a nationwide network of educational events for students, teachers and health professionals.
… by organizing a nationwide network of educational events for students, teachers and health professionals. … Celebrated … and even potential careers," said Carla Easter, Ph.D., Education and Community Involvement Branch (ECIB) chief at … a talk on "Harry Potter" genomics - NHGRI is championing genomic literacy by partnering with museums, schools and …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… fulfills requirements of the Accreditation Council for Graduate Medical Education (ACGME). This includes 18 months of clinical and … … Application Information The NIH Medical Genetics & Genomic Medicine Residency participates in the Medical …
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.
… and other institutions nearby, I knew it was a good fit for me, and I was hoping to help patients with rare … 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 …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . …
Educational Resources
The Human Genome Project was an international project that mapped and sequenced the entire human genome.
… effort that mapped and sequenced the human genome for the first time. Conducted from 1990 to 2003, the project … its scope and scale as well as its groundbreaking approach for the free release of genomic data well ahead of publication, leading to a new …
Fact Sheet
Understanding gene therapy for sickle cell disease
… navigate these new therapies, more than 50 scientists, physicians, patients and other experts worked together to develop content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which …
Event
On October 20, 2022, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences", a program that explores the experiences of renowned African American biomedical researchers and physicians.
… of renowned African American biomedical researchers and physicians. Shaniqua McClendon of Crooked Media will moderate … of renowned African American biomedical researchers and physicians. … On October 20, 2022, NHGRI and the Smithsonian … of renowned African American biomedical researchers and physicians. … Event …