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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 …
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.
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 …