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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.
… influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … pathway that were associated with differences in a person's ability to convert methionine to homocysteine. They found … the differences in methionine metabolism in humans." "It's striking that the genes are in the same pathway, so we know …
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 … . National Institutes of Health (NIH) : NIH, the nation's medical research agency, includes 27 institutes and centers and is a component of the U.S. Department of Health and Human Services. NIH is the …
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 … in the Social and Behavioral Research Branch  of NIH's National Human Genome Research Institute (NHGRI). "This … better time for the research community." In September, NIH's National Heart, Lung, and Blood Institute launched 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.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … senior author of the paper and a staff scientist in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics … individuals. In doing so, the pathogen suppresses the body's inflammatory response to the infection. This way, the body …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … watch the resulting effects, if any, on the organism. "It's often very difficult to know which genes and variants … led by Thomas Metz, Ph.D., at the Department of Energy's Pacific Northwest National Laboratory in Richland, …
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 …
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 … takes about three hours per exome to analyze an individual's protein-coding genes. … The UDP is part of the Undiagnosed … diseases," said Thomas Markello, M.D., Ph.D., the study's corresponding author and clinical staff physician in the …
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 … Bonham , Jr., J.D., an associate investigator with NHGRI's Social and Behavioral Research Branch , Division of … This produces abnormal hemoglobin, called hemoglobin S. [Hemoglobin is the protein molecule in red blood cells …
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 … Gaucher Disease and Parkinson Disease In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease … Kiana Amini, a postbaccalaureate research fellow in Bonham’s group who co-led the project. “These resources reflect our …