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Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network. The national Network combines DNA biorepositories with electronic medical … provided clinical assessments and medical care for adult diseases influenced by genetically influenced conditions to … (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network. …
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 … Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), the researchers plan to analyze how …
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.
… 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.
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.
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
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.
News Release
The TCGA network describes uterine and bile duct cancer.
… tumors. Last month, two publications from the TCGA network described two diverse types of cancer: uterine cancer … TCGA holds for cross-cancer comparisons. Today, the TCGA network published a paper analyzing the molecular … The TCGA network describes uterine and bile duct cancer. …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… causes of multiple rare and debilitating autoinflammatory diseases and identifying and treating previously undiagnosed illnesses, efforts that have alleviated the … Dr. Kastner. "Seeing my patients overcome debilitating diseases has been my biggest reward. This Sammie award is …