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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, …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… language spoken, nationality, geographic origin, sex at birth, gender identity, disability status and age. Each … or intersex when referring to biological sex assigned at birth. 1 When referring to age, we use numerical values like … into different races.  The third study uses the birth certificates of participants and their parents to …
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 …
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. 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.
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… 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 …
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 …