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News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… kidney transplants, which help restore normal levels of metabolic proteins. “Vast fluctuations in metabolic substances in the bodies of patients make it … and senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch. “Instead of looking at levels, we …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… For example, the study entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals … with known or suspected genetic diseases, including metabolic diseases. You can read about this study by going to Studies of Children with Metabolic and Other Genetic Diseases [clinicaltrials.gov] If …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… Health, a group that uses genomic tools to understand metabolic disorders such as obesity, diabetes, and … Research Program, which includes establishing the Metabolic Medicine Branch in 2021 and launching programs to …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… M.D., Ph.D. , as chief of the recently established Metabolic Medicine Branch within the Institute’s Intramural … Program. Dr. Venditti was selected for his expertise in metabolic diseases as well as his leadership and mentorship … became a senior investigator in the Medical Genomics and Metabolic Genomics Branch. Dr. Venditti will begin his …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… Biesecker, M.D., chief of the NHGRI Medical Genomics and Metabolic Genetics Branch, who has extensive experience in … Biesecker, M.D., chief of the NHGRI Medical Genomics and Metabolic Genetics Branch. Credit: Ernesto del Aguila III, …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… For example, the study entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals … read about this study by going to Studies of Children with Metabolic and Other Genetic Diseases . If you find a clinical …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… broad experiences in clinical and molecular genetics, metabolic diseases, and bioinformatic applications. The … in several respects. It exposes residents to rare metabolic disorders that might not be seen in a more typical … spectrometry to enable diagnosis of a wide range of inborn metabolic disorders. Fellows in this laboratory program …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… most patients with cblA and cblB show clinical and metabolic improvement with supplementation with a form of …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… senior investigator with the NHGRI Medical Genomics and Metabolic Genetics Branch. “Thus, studying the genomes of … interests include diabetes and other endocrine and metabolic diseases; digestive diseases, nutrition, and …