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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
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Green, M.D., Ph.D. … As Summer 2020 comes to an end, many of us continue to spend the bulk of our time working from … of the central challenges in biology is understanding how genomic variation affects genome function to influence … numerous genomic variants that may play a role in human disease. However, there is limited information about how any …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( … ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey … to a certain trial, you should learn about: Phases of a clinical trial. Study outcome(s). How researchers will …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In patients with GD, this enzyme does …
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.
… remain about ethical, legal and social implications of the technology. People who are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. … 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 … materials reflect the priorities and perspectives of both individuals living with sickle cell disease and the … gene therapy to understand the benefits and limitations of treatments so that they can make an informed decision on …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. The Democratizing Education for Sickle Cell …
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.
… Each news cycle brings reminders about the importance of science and its critical role in society, and NHGRI … – ENCODE was able to develop an updated and much-improved genomic encyclopedia, expanding its provision of critical … continually help to advance our understanding of genomic basis of human traits and diseases. With the success of the …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying the genomes of many people, looking for genomic variants that occur more …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… (NHGRI) has appointed Carolyn Hutter, Ph.D., the director of the Division of Genome Sciences - the NHGRI division that … health and disease, and seeks technologies that facilitate genomic discoveries. … Dr. Hutter comes to the position with … moves towards a fuller understanding of the genomic basis of human disease. She will be responsible for …
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 …