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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 …
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, Ph.D. … 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 …
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 …
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 …
Event
On November 5-9, 2024, 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.
… Kuki Davey Functional Validation of HMCN1 as a Candidate Gene for Childhood-Onset Essential Hypertension 2037W …
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
NHGRI's History of Genomics Program will host a one-day conference to explore and celebrate the work of David Depew on July 29, 2021.
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… profiles (such as the use different pharmaceuticals, gene-based therapeutics, and preventive strategies) as well …
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 …