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News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… glutaric aciduria type I) known as "inborn errors of metabolism" (IEM). Patients with IEM have an inherited … of a required protein (or proteins) needed to keep their metabolism churning properly. This absence can lead to a …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… 2021, Dr. Rossignol has been teaching the Inborn Errors of Metabolism course offered by the Foundation for Advanced … Vaz FM, Ferreira CR. Inherited disorders of complex lipid metabolism: A clinical review . J Inherit Metab Dis . 2021 …
Staff
Antwi-Boasiako Oteng is a Research Fellow at the Center for Research on Genomics and Global Health.
… University, Netherlands, and a PhD in Molecular Nutrition, Metabolism and Genomics in 2019 from Wageningen University. … Kersten investigated the regulation of cellular lipid metabolism with a focus on trans fatty acids, as well as the …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… Dr. Hakonarson said.  Genes that play a role in fat metabolism. Dr. Hakonarson also led a study that examined LOF variants in a gene, PCSK9 , which plays a role in fat metabolism. Those with LOF variants in this gene may have low …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
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.
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… M.D., assistant research physician in NHGRI’s Metabolism, Infection and Immunity Section and co-first … Peter McGuire, M.B.B.Ch. , NHGRI investigator, head of the Metabolism, Infection and Immunity Section and senior author …
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.
… provide leadership on research into diseases that disrupt metabolism. Dr. Venditti has been at the NHGRI for nearly 20 …