Search Results
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: …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… of additional genes involved in the development of tooth defects. Dr. Hart's group identified the CTCS gene defect in … recessive amelogenesis imperfecta and localised enamel defects. J Med Genet , 40:900-6. 2003. [ PubMed ] Hart PS, …
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. … As we learn more about … adopted children have used DNA tests to track down their birth parents, or to find previously unknown siblings. …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
… transduction. Sialic acid synthesis is tightly regulated; defects in this pathway cause a variety of disorders, …
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 …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… of a genome-wide association study of neural tube defects allows an unbiased search for genetic contribution. …
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 …
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 …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic testing may be performed prenatally or after birth. Genetic testing is also used to study the genomes of …
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 …