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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 …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … to better understand the causes and development of these diseases, and to improve the ability of doctors to diagnose … and a Metabolomics Core, as part of the NIH Undiagnosed Diseases Network (UDN). In addition, six new awards fund …
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.
… manifestations associated with Gaucher disease. Diseases. 2;5(1). pii: E10. doi: 10.3390/diseases5010010. …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… molecular and biochemical techniques to understand genetic diseases of the teeth, the oral cavity and the kidney. … molecular and biochemical techniques to understand genetic diseases of the teeth, oral cavity and kidney. Gum tissue is important in tooth development, with …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… (MMA) respond to receiving liver or combined liver and kidney transplantation. Researchers also used the test to … from the National Institute of Diabetes and Digestive and Kidney Diseases and the National Institute of Mental Health. Your … (MMA) respond to receiving liver or combined liver and kidney transplantation. …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryx™ fingerstick at-home sampling.
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.