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Event
On Tuesday, February 6, 2024, the National Human Genome Research Institute hosted an eConsult webinar to provide an overview of three notice of funding opportunities (RFA-HG-24-001, PAR-24-106 and PAR-24-107). Questions were answered during the webinar.
… affiliated with their healthcare system.  Can services bill providers, patients, or insurance? This will likely …
Event
NHGRI commemorates the life and legacy of genomics champion Representative Louise M. Slaughter (D-N.Y.), who passed away in March 2018, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her honor.
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… dysplasias, inborn errors of metabolism William A. Gahl, M.D., Ph.D. Inborn Errors of Metabolism, cystinosis, …
News Release
NHGRI has created a new publicly available digital archive and search aid for accessing documents related to the Human Genome Project and the history of genomics.
… meetings; Dr. Collins’ handwritten notes for President Bill Clinton to announce the completion of the first draft …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… tests. This means that there is no straightforward way to bill for many tests or for payers to identify what genetic …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA , Gahl WA, et al. Hermansky-Pudlak syndrome: Mutation update . … Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA , Gahl WA, et al. Clinical management and outcomes of patients … M Gerhard-Herman, FS Collins, EG Nabel, RO Cannon, WA Gahl, Introne WJ. Phenotype and course of Hutchinson-Gilford …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2022.
… Appropriations Fiscal Year 2022 Omnibus Appropriations Bill President Biden’s Fiscal Year 2023 Budget Request …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. MED23-assoicated intellectual … family. Am J Med Genet A 167(6):1374-80. 2015. [ PubMed ] Gahl WA, Tifft CJ. The NIH Undiagnosed Disease Program: …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… an NIH grant were related to harassment. Passage of this bill into law ensures NIH is made aware when the reason for …