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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.
… biochemical pathway called the folate one-carbon metabolism (FOCM) pathway. They knew that abnormally high … underlying high homocysteine levels - and methionine metabolism gone awry - are not well defined. Dr. Williams and … population for decades. They also measured methionine metabolism - the ability to convert methionine to …
File
… Human Genome Research Institute Acute Infection in Mitochondrial Disease Why are we doing this study? … the implications of COVID-19 in individuals with mitochondrial disease or their family members are unknown. However, individuals with mitochondrial disease may be particularly at-risk for decline …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… in the December 2017 issue of M olecular Genetics and Metabolism . … A single mutation in the Gaucher disease gene, … impacts disease onset and course . Molecular Genetics and Metabolism ,Volume 122, Issue 4, 198-208, December 2017. … A …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… and systems in the mouse - such as the immune system, metabolism and stress response - are so different from those …
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… Study focuses on the following diagnoses: Inborn errors of metabolism Mitochondrial disorders CLN3 Batten disease Undiagnosed … Roles of Siblings of Children with Inborn Errors of Metabolism . J Dev Behav Pediatr . 2023 Feb 23. doi: …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… of Events . …  A new NHGRI resource about pediatric mitochondrial disease and COVID-19 is now available . COVID-19 poses a significant threat to children with mitochondrial disease. In fact, when these children get sick … Peter McGuire, M.D. , provides details about pediatric mitochondrial disease, steps that have been taken to address …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… and hyperhomocysteinemia. Session #72: Inborn Errors of Metabolism: Novel Disorders, Models, and Observations; Hilton … Protein Losing Enteropathy: An inborn error of lipid metabolism due to DGAT1 mutations. (Metabolic Disorders) … the immune phenotype of a cohort of patients with primary mitochondrial disease. (Metabolic Disorders) 2453T. Karin …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… of peoples’ DNA that resulted in measured differences in metabolism. For many of these regions, they were able to …
Diversity Center
Meharry Medical College establishes a Diversity Center for Genome Research (DCGR) that will narrow inequitable representation gaps for underrepresented, disadvantaged minority by realizing their vision to promote African ancestry genomic research through infrastructure building and the formation of basic, clinical, and computational science research teams that are inclusive, interdisciplinary, and community-engaged.
… protects against these diseases.  Immunophenotyping and mitochondrial analysis of blood cells from African-American … to unravel the protective roles of immune responses and mitochondrial activities in populations with higher risks of … molecular profiles of the immune cell in correlation with mitochondrial activity will reflect an individual’s overall …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.