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Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… DL.The monogenic autoinfalmamtory diseases definenew pathways in human innate immunity and inflammation. Nat … Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… as a junior faculty member in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board … clinical observation that infection is a major cause of metabolic decompensation and associated morbidity and … organisms or immune activators, to yield insights into the metabolic perturbations seen in disorders of mitochondrial …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker leads a program … clinical and molecular geneticist, Medical Genomics and Metabolic Genetics Branch, Proteus syndrome, ClinSeq … ASHG …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… gain broad experience in clinical and molecular genetics, metabolic diseases and cytogenetics. M.D. candidates must … Genetic Disorders, Clinical Genetics, Molecular Genetics, Metabolic Diseases, Cytogenetics … Three-year residency …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… treatments, the disorder can cause recurrent episodes of metabolic acidosis (when the body produces too much acid, or … Organic Acid Research Section, 61 patients enrolled from metabolic treatment centers across the United States and … Harvey S. Mudd, M.D., a physician and NIH researcher in metabolic disorders, was also instrumental in this work. MMA …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk pregnancies. The … adult and pediatric, including cytogenetic, molecular, and metabolic evaluations, and extensive exposure to … Etiologies, Prenatally Diagnosed Anomalies, Genetic And Metabolic Disease, Healthy Pregnancies, High-risk …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… and have also uncovered new details about an important metabolic pathway that plays a major role in several common …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… a good model for humans. We found that many processes and pathways are conserved from mouse to human. This allows us to … investigators found that for the mouse immune system, metabolic processes and stress response, the activity of some …