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News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… lead to improvements in other SCD problems such as liver, kidney and other organ damage. All stakeholder groups wanted …
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 … are associated with an increased risk of common diseases such as stroke, cardiovascular disease and dementia. …
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. … Dr. Hart uses molecular and biochemical techniques … understand genetic diseases of the teeth, oral cavity and kidney. Gum tissue is important in tooth development, with …
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.
… can experience excruciating pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, …
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 …
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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.