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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… GTEx data release represents the largest atlas of human gene expression and catalog of trait loci to date. … Launched by … the human genome. Understanding how the eQTLs change gene behavior in different tissues can help us understand how …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… Pittsburgh, PA … The human Developmental Genotype-Tissue Expression (dGTEx) project is co-funded by the National Human … as well as a tissue bank to study the regulation of gene expression in multiple relatively healthy reference … Infrastructure Programs (ORIP), studies developmental gene expression patterns in two species of non-human …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data.
… in the RFA, individual projects collect genomic data on gene expression, as well as surrogate markers of regulatory … in different cell fates or cell states. They use the gene expression and functional element data to construct gene …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate … for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in partnership … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
Virtual Exhibit
The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.
… Collins, M.D., Ph.D. included a section dedicated to the “Gene Sweepstake,” pointing out that the basis of GeneSweep … was scientifically unclear — that is, what exactly is a gene? At a basic level, a gene is considered to be a region of the genome that codes …
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 … there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all … … Step 2: Eligibility Your eligibility to participate in a gene therapy may depend on: Your age. Your diagnosis of …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… It is important to understand the components of gene therapy, how these components differ and other treatment … cells to reduce your symptoms of sickle cell disease. Gene therapies use your own stem cells, while bone marrow transplants use the stem cells of a matched donor. Gene therapy In gene therapy , your stem cells are changed …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… actions you may want to take as you think about receiving gene therapy. … There are many unknowns about what to expect from gene therapy. Your thoughts, feelings, beliefs and attitudes … care for your mental and physical health as you consider a gene therapy clinical trial. Focus on your thoughts and …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… previous methods such as linkage mapping and candidate gene approaches. The CMGs aim to make major contributions to … … Genetic Disorders, Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders … The …
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.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 publications …