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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
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves … associated with a hereditary or genetic disorder. … Cell-free DNA testing is a laboratory method that involves … and characterization of some cancers and to monitor cancer therapy. … Cell-free DNA testing is a laboratory …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… the oxygen and nutrients in the original tumor site, the cancer cells travel to other parts of the body (metastasize) … They published their findings February 6, 2017, in Pigment Cell and Melanoma Research . "These newly identified genes … the Genetic Disease Research Branch at the National Human Genome Research Institute, a part of NIH. "In addition, …
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 … . While there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all … therapy may depend on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over … from person to person. … Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from … severity of SCD symptoms. "Scientists identified sickle cell anemia in 1910, but there is still much to learn about …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 … expressed overall optimism about participating in human genome editing clinical trials, but were concerned about … Heart, Lung, and Blood Institute launched the Cure Sickle Cell Initiative  to accelerate development of the most …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
… of a protein that is part of the system that regulates cell division. … BRCA1, BRCA2, Cancer, Oncogene, Cell, Gene, Mutation … A tumor suppressor … Such mutations may contribute to the development of a cancer. … A tumor suppressor gene directs the production of a …
Educational Resources
The genome is the entire set of genetic instructions found in a cell.
… Genome … The genome is the entire set of genetic instructions found in a cell. … Genome, Genomics, DNA Sequence, Human Genome Project, … genome is the entire set of DNA instructions found in a cell. In humans, the genome consists of 23 pairs of …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… analyze and interpret DNA sequence information from cancer patients. They have developed an algorithm that sorts … to their clinical and biological relevance to a patient's cancer. … The findings eventually may help guide … Exploratory Research program at the National Human Genome Research Institute (NHGRI), and the National Cancer …
Educational Resources
A carcinogen is an agent with the capacity to cause cancer in humans.
… … A carcinogen is an agent with the capacity to cause cancer in humans. … Cancer, Tumor, Genetic Mutation, Chemical … A carcinogen is a … smoke). Most carcinogens work by interacting with a cell’s DNA to produce mutations. … A carcinogen is an agent …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… Dr. Meltzer is a leader in the application of genome science to cancer research. His recent studies investigate the genetic … Hepatocellular Carcinoma and Cholangiocarcinoma . Cancer Cell , 32(1):57-70.e3. 2017. Killian JK, Dorssers LC, Trabert …