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- 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
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to support research about the disease and pursue possible treatments. In 2015, Matt was one … sequencing can transform the life of someone with a rare disease comes from Sonia Vallabh and Eric Minikel . After a …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… Genomics is revolutionizing health assessments before birth. … Did you know that DNA sequencing … testing has required invasive procedures with associated risk. New DNA sequencing technologies have now truly … and chorionic villus sampling) also posed a low risk to the pregnancy itself. The advent of highly sensitive …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… "Ask Me Anything" (AMA). … Common diseases such as heart disease and diabetes are highly complex, with multiple factors that play into your risk of disease development. These factors - like genetics, … challenges in using that information to improve risk assessments and behavioral recommendations. In our research, …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic … begin evaluating the safety of potential treatments. The risk of off-target edits, or unintended edits, and their …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or … called linkage mapping - can offer firm evidence that a disease transmitted from parent to child is linked to one or … development of more common disorders such as asthma, heart disease, diabetes, cancer, and psychiatric conditions.  … To …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … if any, is needed to study Mendelian and common disease, and what should NHGRI do in this area? Why? … of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … Research Program (Kids First) and the Undiagnosed Disease Network (UDN). … Rockville Hilton Hotel … MD … 1750 … focused on KOMP's collaborations with various human disease gene discovery programs. … The 2018 meeting focused …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… subset of genomic variants contributes to human health and disease.  Researchers create reference human genome … SNVs but can sometimes have a larger impact on health and disease (e.g., by disrupting the function of a gene that … where a genomic variant might contribute to the overall risk that a person might have of the condition). Healthcare …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… mission to understand, prevent, detect and better treat disease. In some cases, research participants may also gain some individual benefit, such as diagnosis of a disease or access to a treatment in development. … A wide … purpose of any study and any potential personal benefit or risk from participation. Consider the following list of …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.