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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
Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
… Meeting a JHU/NIH Genetic Counseling Training Program graduate will help you … help when deciding whether to apply. … Coursework for the Genetic Counseling Training Program (GCTP) is offered on the … This week's topic is about how to measure the outcomes of genetic counseling and how to use these measures to evaluate …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study shows genotype-first approach uncovers new links to genetic conditions. … National Institutes of Health … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research … Core and first author of the paper. Typically, to treat genetic conditions, researchers first identify patients who …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… . The work also detailed many differences between the two genetic types, particularly in signaling pathways that … showed that BRAF -driven tumors have a broader range of genetic complexity than previously thought, with distinct … system that more accurately reflects underlying genetic characteristics of the cancer. The researchers, led …
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
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 …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… heritability from common diseases associated with common genetic variants to rare diseases associated with rare … that are not inherited and instead are due to new genetic mutations and somatic mosaicism. CPHR investigators … at a basic research level, in which investigators use genetic variation to identify pathways that can be targets …
Event
On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.
… and Program Analysis Branch hosted a panel discussion - Genetic Paternalism: Striking the Balance Between Expert … engagement with marginalized communities. … Online … Genetic Paternalism: Striking the Balance Between Expert …
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 …
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
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 …