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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.
… Clinical Associate Investigator, NHGRI 10:05 - 10:30 a.m. Genomic Therapies for Methylmalonic and Propionic Acidemia … acidemias with clinical and scientific partners to develop genomic and small molecule therapies for a number of the … in several upcoming small molecule, enzyme replacement and genomic phase I/II clinical trials. … Scientific Updates on …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
Event
Joint workshop featuring overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community.