Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … (NIH). The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve patient …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… have found that being a carrier for sickle cell disease, known as having sickle cell trait , increases the risk of blood clots, a risk that is the same among diverse … that may not traditionally be associated with sickle cell disease. The study provides estimated clinical risks for …
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 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 … anemia in 1910, but there is still much to learn about the disease," said Vence L. Bonham , Jr., J.D., an associate …
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 … in the DNA code - called variants - can cause a disease. Scientists at the center, led by Hugo Bellen, … of Oregon in Eugene, will eventually study the potential disease-causing effects of approximately 200 gene variants …
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 for finding potential disease-causing gene variants in undiagnosed patients. The … that could be responsible for an individual's undiagnosed disease, thereby increasing the likelihood of a diagnosis." …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… and the National Institute of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which …
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 are now available from researchers at the National …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge … from 1 in 3,000 to 1 in 6,000 children. Because the disease results in multiple defects throughout the body, …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - 2:45 p.m. … NHGRI 1:10 - 1:25 p.m. Presentation 1: Using Polygenic Risk Scores Combined With Multi-omics Data to Provide …