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News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… Steven Benowitz … The National Institutes of Health has awarded grants of more than $28 million aimed … Such knowledge is important for defining the role of genomic differences in human health and disease." With these … elements is critical for understanding the genomic basis of disease," Dr. Pazin said. "We do not have a good way …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… Steven Benowitz … The National Institutes of Health (NIH) recently awarded approximately $6.8 million … explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … in UDN patients with information about the patients' genomic make-up and results from various medical tests. Taken …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… Steven Benowitz … A series of nearly 20 papers published online in 2014 highlights … (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to bring … politicians, ambassadors, scientists, company executives, disease advocates, and journalists gathered to celebrate a … (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are …
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 meaning and limitations of treatments so they can make an informed decision on … only. They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to …
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.
… Jeannine Mjoseth … Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… Prabarna Ganguly, Ph.D. … Study of millions of people from diverse ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … cholesterol levels, a major risk factor for heart disease. The study, published in the journal Nature , was …
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 … oxygen delivery. Little is known about why the severity of these symptoms varies throughout the course of a lifetime, …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Green, M.D., Ph.D. … As Summer 2020 comes to an end, many of us continue to spend the bulk of our time working from … of the central challenges in biology is understanding how genomic variation affects genome function to influence … numerous genomic variants that may play a role in human disease. However, there is limited information about how any …
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 … byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In patients with GD, this enzyme does …