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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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 . …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… Search for specific publications by title, author, category and/or … 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 …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations … inherited retinal disease with gene editing Validation of a clinical breast cancer risk assessment tool for all … … Genome sequencing may be the method of choice for detecting repeat expansion disorders …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years … of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come … directly from people with sickle-cell disease. One of the new sickle cell treatments uses the CRISPR gene-editing …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… The program comprises five Research Centers (RCs) and a Data Coordinating Center (DCC). The research centers will … The centers will also aim to solve “unsolved” cases for which a candidate gene was not identified by solely using … collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means … comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… how these components differ and other treatment options for sickle cell disease, such as bone marrow transplant. … understand these various approaches. … Types of treatments A variety of approaches target the blood stem cells to reduce … a stem cell transplant, your stem cells are replaced with new stem cells that have genes that do not code for sickle …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… Colon cancer, a malignant tumor of the large intestine, affects both men and women. In the United States, approximately 160,000 new cases of colorectal cancer are diagnosed each year. … … these mutated genes from an affected parent is 50 percent for both males and females. Scientists have discovered …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… whole-genome sequencing (WGS) are commonly used methods for determining causal variants underlying Mendelian disease. … Human Genome Research Institute (NHGRI) is interested in obtaining feedback from the scientific community to better … to Accelerate Genetic Diagnosis … NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy caused by a … including sitting and standing independently. The mean age for walking in boys with Duchenne muscular dystrophy is 18 … changes in the gene ( deletion/duplication ) and another method, which looks at the letters that spell out the …