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Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully … Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational …
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 …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… may be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you … a clinical trial.  …  Step 4: Preparation for stem cell collection (~90 days)  Gene therapy requires stem cells … of sickled blood cells.  …  … ​​​​​ … Step 5: Stem cell collection (~6–8 weeks)  The stem cell collection …
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 …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch at the National Human Genome Research Institute of NIH. She earned her Ph.D. from … hybridization on modern dog breed development . Cell Reports 19(4):697-708, 2017. Decker B*, Parker HG *, …