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News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… with DADA2 and other autoimmune and autoinflammatory diseases. Researchers published their findings in the April …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … support and joint leadership for the network via the NIH Common Fund. "By bringing together a nationwide network of … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … process. Other components of autophagy are involved in common neurological disorders, such as Alzheimer’s disease. … new avenues of research about ATG4D ’s involvement in more common conditions. “That’s the million-dollar question in …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
… Simona Volpi, common diseases, Genotype-Tissue Expression Project (GTEx), NIH Common Fund …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in … - MedlinePlus Achondroplasia - Genetics and Rare Diseases Information Center … Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature. …
Educational Resources
A fibroblast is the most common type of cell found in connective tissue.
… A fibroblast is the most common type of cell found in connective tissue. … A fibroblast is the most common type of cell found in connective tissue. …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and at the National Human Genome Research … been identified for ~85% of genes associated with human diseases. Therefore, when a candidate gene for a disease or … such as DNA repair, hematopoiesis, immunity, metabolic diseases, regeneration and specific phenotypes studied by …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… cancer-causing pathway in lung adenocarcinoma, the most common subtype of lung cancer. Knowledge of these genomic … Institutes of Health. A TCGA analysis of another, less common, form of lung cancer, squamous cell carcinoma, was … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… that also involved sores on the body, including the common canker sore. The study illustrates how long-standing … during flares.” While PFAPA syndrome has become the most common recurring fever syndrome in children from Western … symptoms between PFAPA syndrome and two other inflammatory diseases: Behçet’s disease, which causes inflammation of …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… of the genes to be definitively associated with the most common form of the disease. The work was funded by the … medicine. With over 20 expert panels working on different diseases — breast and ovarian cancer, glaucoma and familial … of the genes to be definitively associated with the most common form of the disease. …