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News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… presence is necessary for the generation of white blood cells called T follicular helper (TFH) cells in response to a viral infection. These TFH cells then interact with another type of white blood cell - …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… of treatments A variety of approaches target the blood stem cells to reduce your symptoms of sickle cell disease. Gene therapies use your own stem cells, while bone marrow transplants use the stem cells …
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.
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.
… These and other symptoms result when mutated red blood cells take a sickle shape, blocking blood flow and decreasing … to improve our understanding of the disease." Normal blood cells (left) and the blood cells in Sickle cell disease, which do not flow through the …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… leaving) a clinical trial. … Step 4: Preparation for stem cell collection (~90 days) Gene therapy requires stem cells to be collected from your bone marrow or blood, taken …
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.
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… controlling movement. Midbrain neurons from the new mouse model. The green shows the clumped alpha-synuclein. … In the study, the authors used a Parkinson's disease mouse model that carried extra copies of a mutated form of … mutated GBA1 protein, so that it can still function. In stem cell-derived neurons made from samples from patients …
Fact Sheet
Currently, there are different gene therapy approaches available through clinical trials.
… Hemoglobin types and sickle cell disease Your red blood cells contain hemoglobin , a protein that carries oxygen. Red … types of hemoglobin that make up red blood cells. … Blood stem cells (also called hematopoietic stem cells) are cells that can develop into any type of blood …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… the disease comes from the “sickle” shape of the red blood cells that form in patients with the disorder. Red blood cells contain the protein hemoglobin, which carries oxygen in …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… is caused by a single gene mutation that causes red blood cells to take on an unusual sickle shape. People affected by …