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News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH's Clinical Genome Resource … in concert to advance knowledge connecting human genomic variation to human health. … Advancing Knowledge of Human …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes can cause … Genetic Studies of Lysosomal Storage Disorders Genetic Variation Physicians' Understanding of Human Genetic Variation Growth Disorder Study of Proteus Syndrome and …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Findings, Genetic Variant, Gene Variant, Gene Variation … This team-based clinical service is provided by …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… the most common subtype of lung cancer. Knowledge of these genomic changes may expand the number of possible therapeutic … Green, M.D., Ph.D. "These results give us important new genomic insights into the development and behavior of an … to secondhand smoke. In addition to the two lung cancer studies, the TCGA Research Network has generated data and …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… beyond the academic medical center and explore the use of genomic medicine in community-based clinics and primary care … Two grants focus on the use of pharmacogenomics, which studies how a patient's genetic make-up affects drug responses. A third grant examines the role of genomic information in diagnosing and treating inherited …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… form should reflect the research uses for which samples, genomic data, and health information might be shared. … to obtain consent for future uses and broad sharing of genomic and phenotypic data. For more information on genomic … data use is consistent with those choices. For genomic studies involving the use of previously collected samples, …
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.
… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread … National Institutes of Health, determined that specific genomic variants that cause a disease called familial … ways. For example, they can influence some of the genomic variation that accumulates in human populations over time. …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
Research Funding
The Division of Genomics and Society focuses on the societal issues that need to be studied and addressed as genomics advances.
… societal issues that need to be studied and addressed as genomic science and medicine move forward. The division helps … to ensure that the research findings are incorporated into genomic research initiatives and other NIH and NHGRI …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… The Big Picture Genomic data science is a field of study that enables … our ability to decipher the information it contains, so genomic data science will be a vibrant field of research for … must be educated about the implications of their studies and work closely with ethics researchers. … How do …