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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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.
… two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 … and millions of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come from …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… Health Research and head of the Childhood Complex Disease Genomics Section within the Intramural Research … such as malnutrition, hypertension and sickle cell disease in diverse populations. He also works with a highly … transfusion treatments seen in patients with sickle cell disease. Many of the conditions that Dr. Hanchard studies are …
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
… of both genomic and non-genomic contributors to health and disease — routinely considering the importance of social and … genomic conditions can provide insights into more complex disease processes, where the causes are often a truly … a 22-item framework that identifies the minimal polygenic risk score-related information researchers should include in …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… Bryant had a variant in the RET gene, which increased his risk of having a condition called multiple endocrine … surgery to remove his thyroid. At his early stage of the disease, the removal of the thyroid is usually curative … relying on individual and collective genomic data to make assessments about a person’s health risks. Clinicians can …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. … about gene variants and their connections to health and disease. These experts then determine what each variant might mean for disease diagnosis and treatment. Information on the gene …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… research endeavor to understand the genetic basis of disease in all populations. But this can only be done by … are missed to advance not only the understanding of disease within those populations, but also for humans across … research on the genetic and environmental factors of disease. Five years after the program's first grants were …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… Center. Inflammation is the body's response to injury, disease, or irritation of the tissues. Dr. Kastner and his …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… researchers have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome … to significantly increase the number of known Mendelian disease genes by implementing new genome-sequencing …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… definitively associated with the most common form of the disease. The work was funded by the National Human Genome … reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design and … evidence to support disease causation only creates a risk of inappropriately interpreting the genetic information …
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.