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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 …
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 …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
… CBFß-SMMHC is required to induce embryonic hematopoietic defects and leukemogenesis. Blood, 121:638-42. 2013. [ PubMed …
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 …
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
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. …
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 …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… state the mouse model embodies the characteristic vascular defects found in HGPS patients, including age-related loss of … with FTIs was successful at reducing the cardiovascular defects in young mice. In addition, it improved the … LB, Collins FS. Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts . Proc Natl Acad …
File
… cystic fibrosis and haemophilia. The global prevalence at birth of all single-gene disorders is about 10 per thousand. … practice throughout the world. The prevalence at birth is about 2Ð3%, though the prevalence of individual … vary between different countries. For example, neural tube defects are common in China, Egypt and Mexico, while cleft …