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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 … but to fundamental new insights into blood vessel disease. In their study, which appears in the Feb. 19, 2014, … role in revealing the genomic basis for an important rare disease," said Eric D. Green, M.D., Ph.D., director of …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … 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.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset … 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 …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… Eric Green, M.D., Ph.D. … Last month, I had a busy four-day, three-city visit to India. In addition to meeting with … definitively associated with the most common form of the disease. The panel’s results were published in the journal … applications for Emerging Centers in Fiscal Year 2020. …  Rare Disease Day is a worldwide observance that aims to raise …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … increases the production of fetal hemoglobin which reduces disease severity. Study participants expressed overall …
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.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … determined that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also … animation depicting specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also …
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.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully understand the … Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… a more profound understanding of the biological basis of disease will pave the way for more effective ways to … clinical research endeavors extend far beyond searches for disease genes. researchers are studying knock-in mouse with … Genetic Disorders, Genetic Disease, Genetic Condition, Rare Disease, Undiagnosed Disease, Gene Mutation, Gene …
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.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their … bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other symptoms … anemia in 1910, but there is still much to learn about the disease," said Vence L. Bonham , Jr., J.D., an associate …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… The network's goals? Accelerate the diagnosis of rare or previously unrecognized diseases; improve clinical … Diseases Network: Accelerating Discovery about Health and Disease [cell.com], the online version of the American … Undiagnosed Diseases Network … Accelerating Diagnosis of Rare Diseases … Related Content … UDN guide to diagnosing …