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Fact Sheet
Sickle cell disease resources for patients
… and Prevention (CDC)    Caregivers of Children with Rare and/or Serious Illnesses  National Alliance for …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … role in revealing the genomic basis for an important rare disease," said Eric D. Green, M.D., Ph.D., director of … senior author and staff scientist in NHGRI's Inflammatory Diseases Section. The Israeli researchers, whose study is …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of … related approaches in genome sequencing studies of both rare and common diseases. The following grants have been … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and … variants specific to certain ethnicities and populations, rare disease genes and raw data error corrections. Many of … among the best places to look for gene variants that cause rare diseases, he said. The researchers plan to sequence the …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the Center for Research on Genomics and Global …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic disorder. The body creates … between Gaucher disease and parkinsonism: Insights from a rare disease. Neuron 93:137-46,2017. PMID: 28231462 Borger … manifestations associated with Gaucher disease. Diseases. 2;5(1). pii: E10. doi: 10.3390/diseases5010010. …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other symptoms …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… M.D., Ph.D., available to discuss this major advance for rare, fatal pediatric disease. … has approved the first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, … also known as Hutchinson-Gilford progeria syndrome, is a rare, multisystemic disease that causes premature aging and …