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News Release
Top genome scientists from over 20 countries have joined forces in an effort to improve cooperation and coordination of genomic medicine research worldwide.
… widespread genetic testing against a potentially fatal, gene-linked skin disease that occurs with unusually high …
Health FAQ
Comente estas preguntas con su médico o su equipo del estudio clínico.
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… Prabarna Ganguly, Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, … complete set of DNA. Kastner and his team sequenced gene regions across the genome and discovered only one gene – RIPK1 – to be consistently different in all patients. …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… Krystyna Keller Postbaccalaureate Fellow, Koehly Lab Gene Expression & Bioinformatics for Prenatal Therapy in Down Syndrome Sarah E. Lee Postdoctoral Fellow, … Fellow, Health Disparities Unit Cardiac Strain in the GENE-FORECAST Albert Barrera Postbaccalaureate Fellow, …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… transporter as a regulator of the CLEAR gene network PB3384 Reuben M Buckley eQTL analysis of canine testes identifies gene expression patterns associated with canine body size. … Sickle Cell Disease PB3447 Vence Bonham Democratizing Gene Therapy Education for Patient Communities. PB2369 David Adams …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… need to bind to specific enhancer sequences to express a gene. The researchers used new genomic techniques called … target that may lead to the development of novel therapy to treat hearing loss in humans,” Jimenez said. … …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… with her then-boss Richard Maraia in studying a gene on human chromosome 7. This led to a publication on … the commercialization of promising advances, such as gene therapies, pharmaceutical drugs, novel technologies, … search by scientific area. … Genomics Research Gene therapy for rare eye disease safe but lacks efficacy in early …
Fact Sheet
En la actualidad, la terapia génica para la enfermedad de células falciformes se considera experimental y solo está a su disposición si participa en un estudio clínico.
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.
… hyperthermia Treating inherited retinal disease with gene editing Validation of a clinical breast cancer risk … may have greater diagnostic utility than a targeted gene panel in sick infants New, specific gene editing may … Work is Never Done CYP2C19 Genotyping in Antiplatelet Therapy Read the full review: Manolio TA, Bult CJ, Chisholm …
The Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
… such projects, including positional cloning of a fusion gene in leukemia, the identification of the familial Mediterranean fever gene MEFV, and our current natural history study on patients … for disease gene mapping. … Genomics Research Gene therapy restores immune function in children with rare …