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News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… a senior investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch, NIH director and a corresponding …
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.
… Session 6 Jamie L. Fraser, M.D., Ph.D. Director of Myelin Disorders Program and Fetal Genetics, Assistant Professor of … defects in the propionyl-CoA and vitamin B12 (cobalamin) metabolic pathways. This meeting will bring together … pathophysiology, genetics and treatments for rare inborn metabolic errors. We will also review the opportunities and …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to … edge," said Dr. McGuire referring to a phenomenon known as metabolic decompensation - a biochemical instability that is … Infections, like the flu, are the most common cause of metabolic decompensation in patients with IEM. After medical …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined with … the belly for testing their fetuses for a range of genetic disorders. … Prenatal genome sequencing, genome sequence … the belly for testing their fetuses for a range of genetic disorders. … News Release …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… patients and also provides insights into more common disorders. … They are underlining this important … be involved in or affect Parkinson's disease and related disorders like dementia with Lewy bodies," she said. William … benefit affected patients and provide insight into common disorders. Credit: Darryl Leja, NHGRI He also cited a 2014 …
Educational Resources
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics … 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of … is the perfect place for further exploration of these disorders,” said Dr. Hanchard. “The studies planned by my … as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… concept of autoinflammatory disease to denote a group of disorders mediated by cells of the innate immune system. Dr. … subsequently discovered the genetic basis of two disorders in which interleukin 1b plays an important role. … Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… interests focus on genetically-caused neuromuscular disorders of childhood. In his clinical practice, formerly at … uses next-generation genomic tools to identify new genetic disorders, as well as to carefully establish phenotypic … are perturbed in muscular dystrophy and other muscle disorders. Their overriding goal - in both the laboratory and …