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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 … risk scores and how it can be improved Examine other information sources that should be integrated with genetic variant information in predicting risk Identify …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… History Study of Patients with GNE Myopathy collects genetic and medical information from people with GNE myopathy. Patients are … trials. … GNE Myopathy is a rare ( autosomal recessive ) genetic disorder that causes progressive skeletal muscle …
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 … National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding Reliable Health Information Online …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… Additionally, HIPPA and the Common Rule permit research on information from deceased individuals who did not provide … must authorize disclosure of individual health information, including individual research results.   It is … a specific circumstance, researchers should consider what information is important to convey to ensure respect for …
About NHGRI
Information about how the NHGRI receives its funding and decides how to spend its annual budget.
… the entire genomes of other organisms; ongoing research in genetic science and technology; and a broad program that … explores the ethical, legal and social implications of genetic research, which informs the creation of policy recommendations on the use of genetic information. The NHGRI budget provides funding for a dynamic …
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 …
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.
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 … an individual or family. A genetic counselor might provide information about how a genetic condition could affect an … interpret genetic tests designed to help estimate the risk of a disease. The genetic counselor conveys information
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein … the health of all people,” says Cashell Jaquish, Ph.D., a genetic epidemiologist and program officer within the … of Health.    … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of …