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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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 approaches currently being developed, such as gene therapy and the use of small molecules. By improving our …
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.
… had discovered that Bryant had a variant in the RET gene, which increased his risk of having a condition called … can pose health risks. The genes (which includes the RET gene) are associated with increased risks for several … variants. Promethease flagged a variant in the BRCA1 gene from Morris’s genomic data, which could have significant …
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
… their resistance. We were also able to identify a single gene that seems to be a major contributor to toxin …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 Gangliosidosis: New Biomarker for …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… A. Chapman, M.D., Ph.D. 3:10 - 3:30 p.m. Systemic AAV gene therapy for propionic acidemia (PA) Randy Chandler, … 2:30 p.m. Treatment of CBS Deficient Mice by AAV-Mediated Gene Therapy Warren Kruger, Ph.D. 2:30 - 3:00 p.m. Break …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… the children all had mutations in both copies of the ATG4D gene. ATG4D aids in the cellular housekeeping process called … said Malicdan. A rare disease that involves changes in one gene can help tease apart how that gene acts in a broadly important cellular process. Other …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… France, removed these extra 45 genes using CRISPR gene-editing technology. Dr. Bianchi’s group then compared …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… there is typically only one Y chromosome per cell, if a gene on the Y chromosome is damaged, there is not another chromosome with a copy of the gene that can be used as a template to repair the damage. …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… repeat along a stretch of DNA, sometimes referred to as a “gene array.” Your browser does not support the video tag. Y … the Animation The researchers focused on TSPY , another gene thought to be involved in sperm production. Copies of TSPY are organized in the second largest gene array in the human genome. Like other repetitive …