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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies …
Event
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction . The objectives of the meeting were: Review the state of science of polygenic risk scores and how it can be improved Examine other information sources that should be integrated with genetic variant information in predicting risk Identify …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk pregnancies. The four year training program is open only …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Sally Adebamowo*, Michele Ramsay, Bamidele Tayo Polygenic Risk Score (PRS) Methods and Analysis for Populations of … Cohorts and Novel Methods to Improve Polygenic Risk Scores Massachusetts General Hospital Amit Khera … Minnesota Iftikhar Kullo*, Daniel Schaid Polygenic Risk of Disease in Populations of Diverse Ancestry UNC-Chapel …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… interactive Q&A webinar for the eMERGE Genomic Risk Assessment and Management Network funding opportunities. … by the Steering Committee. If patients have already had genetic testing, can they still be included in the … within the context of this RFA? Secondary findings are genetic test results that are not part of the primary purpose …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… the sources of trait variation into constituent causal factors. The hope is to better understand both the … about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These issues have …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… conditions for which people with SCT are at increased risk. … The First Comprehensive Review They include pulmonary … genes with environmental exposures that may increase risk for some individuals." Hematologists and sickle cell … Researchers found a high-strength of evidence of increased risk for pulmonary embolism, proteinuria and chronic kidney …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… common health conditions, information such as polygenic risk scores are not currently as accurate at predicting risk. Various direct-to-consumer companies are making these … providers generally don’t have a lot of experience with genetic and genomic information. When there is uncertainty in …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … interpret genetic tests designed to help estimate the risk of a disease. The genetic counselor conveys information … counseling to help them adapt to their condition or risk. … Genetic counseling is the professional interaction …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people … on an aspect of their genetic code or genome, such as the risk for genetic disorder. Genetic discrimination can involve …