Search Results
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… acidemia, maple syrup urine disease Fatty acid oxidation defects Medium chain acyl-CoA dehydrogenase deficiency, …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… in 6,000 children. Because the disease results in multiple defects throughout the body, including cleft palate, heart defects, a characteristic facial appearance and learning …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… iHMP was limited to three disease conditions: preterm birth, onset of inflammatory bowel disease, and onset of type … NIH-Funded Study Links Microbiome Composition to Preterm Birth Risk Among African-American Women Notable …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… to make the functional NPC1 protein to correct the cell defects.  The gene therapy involved inserting a functional …
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, …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… transduction. Sialic acid synthesis is tightly regulated; defects in this pathway cause a variety of disorders, …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …
Policy Issues
There are laws and policies that serve to protect the privacy of individuals' genomic information.
… on wide-ranging topics such as infectious disease to birth defects. De-identified biospecimens are not considered human …
The Genomics Landscape
In the April 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 15th anniversary of National DNA Day and the '15 for 15' Celebration.
… Scientists Kids First: Genomic Studies of Orofacial Cleft Birth Defects Data Now Available Unlocking Life's Code: March 2018 …
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.Â
… of a genome-wide association study of neural tube defects allows an unbiased search for genetic contribution. …