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Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
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
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 …
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 … What is achondroplasia? … What … … Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature. … …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… the treatment, prognosis, and prevention of rare and common diseases. The study of genomic variation and its effects on … human history and health, disease susceptibility, and common principles of biology. … The NHGRI Intramural Program …
Educational Resources
A fibroblast is the most common type of cell found in connective tissue.
… Fibroblast … A fibroblast is the most common type of cell found in connective tissue. … Cell … studies of that individual. … A fibroblast is the most common type of cell found in connective tissue. … Educational …
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. … Clinical Genome Resource …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… of helping everyone else affected by CFZS and similar diseases in the future," said Mr. Hanson. "We've come a long …