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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- 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
Event
The NHGRI Center for Precision Health Research sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health.
… of genomic data and large-scale electronic health record information to improve health. Speakers are selected by CPHR … public. Seminar titles and other details are updated as information becomes available. For more information, please contact Les Biesecker at email …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… after their healthcare provider gave them more detailed information. The paper, published in Genomics in Medicine , … findings that come out of genome sequencing reflect information that is separate from the primary reason for an … have the opportunity to decide whether to be provided information about genomic variants in these additional genes. …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… center keep pace with a rapidly evolving DNA sequencing technology landscape. He helped adapt and implement …
Profile
NHGRI science writer Prabarna Ganguly spoke with Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment campaigns.
… research with brilliant colleagues, using the best genomic technology and data sets. We’ve worked with clinicians from … of health and life science at the Office of Science and Technology Policy. How do you feel about being appointed, and … has a clear and deeper understanding of how their genomic information, including their microbes, impacts their personal …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… removed these extra 45 genes using CRISPR gene-editing technology. Dr. Bianchi’s group then compared the two mouse …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… ethnic groups is important for public health, but how this information is reported can perpetuate the myth that race is … minimize the survey burden in the collection of additional information; and recognize dimensions of race such as … addition to gathering self-identified race and ethnicity information, we are advocating that researchers collect data …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… other than by invasive surgery. You can get some information from, for example, blood samples. But in some …
News Release
Using a virtual reality buffet, researchers studied the hundreds of small decisions mothers make while selecting food for their children.
… food choices, the researchers determined why receiving information about their children's genomic risk of obesity … and her collaborators are exploring the impact of genomic information on decision-making and behavior, and seeking the most effective ways to deliver genomic information. In the study, 221 overweight or obese mothers …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.