Search Results
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… methylmalonic acid is elevated 2) patients with combined defects who also have increased levels of homocysteine. … leading to methylmalonic acidemia. Patients with combined defects have elevations of methylmalonic acid and …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …
News Release
On April 25, National DNA Day, the National Institutes of Health (NIH) will welcome a new statue, “The Ladder,” celebrating DNA and children.
… Scherl. Adopted at infancy, Scherl’s reconnection with her birth family was made possible by modern genetics. Using a …
Media Advisory
The NIH-funded Integrative Human Microbiome Project presented at the International Human Microbiome Congress.
… inflammatory bowel disease, type II diabetes and preterm birth. Other session speakers will discuss potential …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… coupled with genealogical records can be used to infer birth location quite accurately. … adopted children have used DNA tests to track down their birth parents, or to find previously unknown siblings. …
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… factor SOX10 result in neural crest stem cell defects in mice that accurately model enteric nervous system … and associated cholesterol and glycolipid storage defects of NPC to discover the underlying molecular defect in … screens to identify major modifiers of primary genetic defects. They have expanded understanding of SOX10 's …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… acidemia and cobalamin (vitamin B12) metabolic defects. By better understanding the complications, we may … acidemia and cobalamin (vitamin B12) metabolic defects. We will define and characterize a patient … 2008. [ PubMed ] Bassim, C. W. et al. Enamel defects and salivary methylmalonate in methylmalonic …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… Absent A1 segment of the anterior cerebral artery . Birth Defects Re s. 2019 Nov 15;111(19):1584-1588. doi: …