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Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… levels can be the result of multiple reasons including acute muscle injury, or chronic condition such as Duchenne …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… infection with antibiotics or has evidence of an acute infection; and any patient who does not have a …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… autoinflammation. She and her team discovered a postnatal myeloid-restricted somatic mutation in NLRP3 in a patient …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… Foundation Eukaryotic Genetics Panel and has served on the Leukemia and Lymphoma Society (LLS) Career Development Award …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… involving tyrosine kinases as a special fellow of the Leukemia and Lymphoma Society (in collaboration with Michael …
The Genomics Landscape
In the May 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recaps activities from National DNA Day 2019.
… Pharmacogenomics” or ADOPT-PGx) will test if patients with acute post-surgical pain, chronic pain, and/or depression …
The Genomics Landscape
In the January 13, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., announces the appointment of Valentina Di Francesco as founding director of the NHGRI Office of Genomic Data Science.
… for research on pathobiological mechanisms of post-acute sequelae of SARS-CoV-2 infection NHGRI funding …
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.
… projects, including positional cloning of a fusion gene in leukemia, the identification of the familial Mediterranean …
File
… infants diagnosed • 13 out of 20 (65%) diagnoses impacted acute clinical management such as: change in medication, …
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 September 2023.
… Research Highlights Diemer et al. – "Characterization of Leukemia Progression in the Cbfb-MYH11 Knockin Mice by Single …