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Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… cells - keep their mitochondria during fertilization. So, mitochondrial DNA is always inherited from the female parent. …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… sequencing and the use of a simple method for extracting mitochondrial sequence data from nuclear exome sequencing. … CK, Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Hofherr S, Richard G, Suchy SF. Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans . Genet Med . 2021 …
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 …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
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.