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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 …
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.
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… the first week after birth to measure the presence of disease biomarkers (a measurable substance or characteristic that is indicative of a disease). … Newborn screening in the United States is a major … that will not occur until adulthood? What is the risk to newborns that the identification of specific genetic …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to find genetic variations associated with a particular disease. … A genome-wide association study is an approach … to find genetic variations associated with a particular disease. Once new genetic associations are identified, … studies to identify genetic variations that contribute to risk of type 2 diabetes, Parkinson's disease, heart …