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News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… a program to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene. The Molecular Phenotypes of Null Alleles in Cells … aims to systematically investigate the function of each gene through multiple phases that will each build upon the …
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.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human … research community to perform more robust Mendelian gene discovery projects. The new clinical centers will be led …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … on KOMP's collaborations with various human disease gene discovery programs. … The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs. … Event …
Profile
In a conversation, Dr. Elise Feingold reflects on her path to NHGRI, describes her experience leading the ENCODE program and shares advice for those considering different scientific careers.
… fetal hemoglobin expression. It's now a major target for gene therapy for sickle cell disease and beta thalassemia. To me, … Feingold managed a diverse portfolio of research grants in gene discovery, gene expression and functional genomics …
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 …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… It almost never gets used. We have CDS for >30 gene-drug pairs in our EHR; this may be relevant, but is not … who has a special clinic setup for difficult cases of drug therapy adverse events and consults for PGx. In our Oncology …
News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
… there to tackle some of the ethics questions related to gene editing. Here, we recap the event (or you can check out … proteins in human cells is an important finding. When gene therapies reached clinical trials in the late 1990's, … the discovery of CRISPR has brought the promises of using gene editing technology to cure debilitating and …
Event
A 10-part seminar series in 2021 that focuses on the “Bold Predictions for Human Genomics by 2030” that are described in NHGRI’s “Strategic Vision for Improving Human Health at the Forefront of Genomics.”
… Prediction #2: The biological function(s) of every human gene will be known; for non-coding elements in the human …
Event
On October 25-29, 2022, 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.
… insights into the biological mechanisms underlying gene-by-smoking and gene-by-alcohol consumption interactions Prog Nbr 298 Amy … Technologies Extensive Differential cell type-specific gene expression and regulation by sex in human skeletal …