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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
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… Ph.D. … NHGRI researchers work with patients, families and the scientific community to improve the informed consent … … As public interest and expanded research in human genome editing grows, many questions remain about ethical, … asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know about …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … throughout the body. In December 2023, the U.S. Food and Drug Administration (FDA) approved two gene therapies to … disease. More than 50 scientists, physicians, patients and other experts worked together to develop content for the …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to … subset of genomic variants contributes to human health and disease.  Researchers create reference human genome sequences to help detect genomic variants in each …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… Collaborative effort aims to help patients and their support networks navigate emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell … are now available from researchers at the National Human Genome Research Institute (NHGRI), part of the National …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… 8:00 - 8:30 a.m. Registration 8:30 - 8:40 a.m. Welcome and Introduction Eric Green 8:40 - 9:00 a.m. Statement of … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … Madison Room ) Determining the functional consequences of variants acting individually and in combination Co-Chairs: …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… of Health researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among … by the National Human Genome Research Institute (NHGRI) and published in the journal Cell , involved citizen science …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … study aims to learn more about the role of viral infection and biomarkers of the immune system in people with …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… Sheena Faherty, Ph.D. … The National Human Genome Research Institute (NHGRI) has appointed Carolyn … to understand the function of the human genome in health and disease, and seeks technologies that facilitate genomic … are integrating information about disease-causing genomic variants and insights about genome function to generate new …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… M.D., Ph.D. … As the summer heat bears down on the country and the battle against the COVID-19 pandemic continues, I … genomics: the 30th anniversary of the launch of the Human Genome Project in October 2020. To amplify that drumbeat, the … clinical data that are currently not consistently used for disease-risk assessment (particularly when focused on …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… published in Nature today, open the door to new research and development in drugs and personalized medicine to help … and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI). Autoimmune diseases occur … people with autoimmune diseases possess unique genetic variants, but most of the alterations are found in regions of …