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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
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… are susceptible to various diseases. … Powerful Clues for Disease Susceptibility While most differences in peoples' … to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders. Understanding how genomic … how inherited differences in DNA can contribute to disease risk and drug response. Of the more than 88 million variable …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… to discuss this major advance for rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has … first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in … in the discovery of the gene responsible for the disease, the development of a mouse model, and the …
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
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… (TRAPS) and neonatal-onset multisystem inflammatory disease (NOMID). Patients with TRAPS suffer from recurrent …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … Cyndi Tifft opened a bag and … of work and a new life for someone with a devastating disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a critical …
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 …
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.
… from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare … from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare … from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… involves a person with a gene variant that is causing disease, but the person is the only one in the world known to … cases that are memorable, those that discovered a new disease or saved a life. He described a 16-year-old boy who …
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
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.