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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to DemocratizingEd@mail.nih.gov . These educational materials … are for informational purposes only. They are meant to promote your general understanding of gene therapy for …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… Breast cancer is the second most common cancer in women after skin cancer. Each year, … breast cancer in her lifetime. … Breast cancer is a common disease. Each year, approximately 200,000 women in the United … cancer - caused by a mutant gene passed from parents to their children - is rare. Estimates of the incidence of …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… DNA biorepositories and electronic medical records (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in …
Genomics Teaching Tool
An activity that demonstrates how DNA can be isolated from a strawberry using common household items.
… DNA from strawberries is super easy, allowing you to learn about genomics. Join NHGRI Director Eric Green and … Jenny Montooth as they show you step-by-step how to extract DNA from strawberries using materials available in … how DNA can be isolated from a strawberry using common household items. … An activity that demonstrates how …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset … or bias - and takes about three hours per exome to analyze an individual's protein-coding genes. … The UDP is … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… Study is exploring the genetic factors that contribute to ADHD, with the hope of improving treatment for this condition in the future. … ADHD often appears to run in families, and research studies have suggested that … Attention Deficit Disorder, Genetic Disorder, Genetic Disease, Genetic Condition, Gene Mutation … The Attention …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… Institute's (NHGRI) Division of Intramural Research is to advance the frontiers of genetics and genomics. … We aim to be world leaders in the translation of genomic knowledge into tools and approaches for improving the treatment, prognosis, and prevention of rare and common diseases. The study of genomic variation and its …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… in men as a result of an extra X chromosome. The most common symptom is infertility. … Klinefelter syndrome is a … of cells containing the extra chromosome varies from case to case. In some instances, XY/XXY mosaics may have enough … a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Men who have …
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.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease. The study, published in the journal Nature , was …
News Release
Washington University in St. Louis awarded an honorary Doctor of Science to Eric D. Green, M.D., Ph.D., for his contributions to the field of genomics.
… in St. Louis awarded an honorary Doctor of Science degree to Eric D. Green, M.D., Ph.D. , in recognition of his contributions to the field of genomics and its application to … the generation and analyses of sequences from targeted genomic regions in evolutionarily diverse species, and …