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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… is an inherited condition caused by alterations in the GBA gene. It affects one in every 50,000 to 100,000 people, but … therapy for Gaucher disease, Ellen Sidransky Ph.D., GBA gene alterations, glucocerebroside accumulation … A team from …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… Genetic Disorder, Genetic Disease, Genetic Condition, Gene Mutation … The Attention Deficit/Hyperactivity Disorder …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… aciduria type III, HPS-2, HPS-3 and HPS-9. The gene responsible for HPS-9, PLDN encodes pallidin, a member … identified NBEAL2 as the gray platelet syndrome (GPS) gene. GPS platelets have no alpha granules, which store … nephrolithiasis due to biallelic mutations in CYP24A , the gene encoding the 24-hydroxylase that inactivates vitamin D. …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker. This protein … harboring mutations identified in each family, only the gene MYMK was common to all three. A knockout mouse model … (genomically altered mice that are bred to lack a specific gene) displayed a complete lack of muscle development, …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… with genomic differences in the semaphorin-4D ( SEMA4D ) gene were about 6 pounds heavier than those without the … SEMA4D in obesity and obesity-related traits. (The SEMA4D gene plays a role in cell signaling, the immune response and … that can be activated to increase the work of a particular gene, he said. They plan to conduct larger studies of DNA …
Fact Sheet
Learn about the different types of hemoglobin.
… To understand sickle cell disease and gene therapy , you should first know about blood cells and … before birth (during fetal development). After birth, a gene that codes for a blocking protein (BCL11A) is turned on. … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… to COEH through cohort-based and natural-history gene-discovery coupled with functional characterization and … better characterize the vascular and clinical phenotype of gene variant carriers.    Severe Acute Malnutrition (SAM)  … ER, Hanchard NA, Wonkam A. Hydroxyurea-Induced miRNA Expression in Sickle Cell Disease Patients in Africa. Front …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… need to bind to specific enhancer sequences to express a gene.  The researchers used new genomic techniques called …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… a transcription factor - a molecular switch that turns a gene or a cascade of genes on or off. In a series of … showed signs of damage. Their metabolism and pattern of gene expression were different from those of healthy cells, …