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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- 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
Research Funding
Fosters basic and applied research on the ethical, legal and social implications of genetic and genomic research. ​
… the generation, interpretation, understanding and use of genetic and genomic information and associated technologies. … that arise in connection with the design and conduct of genetic and genomic research.  Genomic Healthcare These projects may examine issues that arise as genetic and genomic research are integrated into clinical …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single … skills, cognition and communication.  Because most rare genetic disorders are due to a single faulty gene, gene … Dr. Tifft hopes to use gene therapy to treat other rare genetic disorders, such as Tay-Sachs disease — a fatal …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… Hopkins and institutions that took care of people with genetic conditions. I thought to myself, “This is what I want … allow us to include environmental risk factors in our genetic analyses. Since then, we've identified several … was that we could predict the carriers of the high-risk genetic variant, diagnose and remove their tumors at a very …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… and uniformity provides an exceptional opportunity for genetic dissection of biological processes, her lab has … lab is focused on three primary regions of canine genetic research: drivers of behavioral and morphological … loci, with a special focus on men of African ancestry. … Ostrander EA, Wang GD, Larson G, vonHoldt BM, …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… in the sequence of DNA among individuals are called genetic variation. Genomic variation explains some of the … same chromosome. The program also seeks to relate there genetic variants to functional variation and phenotype. The … Variation Program supports large-scale studies of human genetic variation as part of projects such as the …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how … effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating … M.D., Ph.D. The effort is critical to accomplishing the genetic research goals outlined in the National Plan to …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… little significance alone, but together they increase the genetic risk for certain symptoms of the disorder. The more ADHD related genetic variations a person has, the more likely they are to … in isolation. Adding them all up can provide you with a 'genetic risk score' (called the polygenic risk score) that …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… . This study aims to learn more about the genetic contributions to the severity of COVID-19. We hope to … Study … The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19. … … The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19. …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… a global understanding of the relationship between human genetic variation and population differences in disease … health disparities. Its investigators will develop genetic epidemiology models that will explore the patterns … of Africa is highlighted to depict the emphasis of our ancestry and to remind us that the human race has a common …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… NIH-led study finds genetic markers that explain up to 12% of the differences … locations that together explain a much larger part of the genetic differences in people’s blood pressure. Knowing a … the collected data was mostly from people of European ancestry (due to limited availability of diverse datasets …