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Fact Sheet
Sickle cell disease resources for patients
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… NHGRI.  Dr. Bell and her team isolated DNA from tumor cells and from normal cells from patients with CCEC. Their goal was to identify genetic mutations in CCEC tumor cells that are absent from normal cells. The team sequenced …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… change in the gene that produces hemoglobin, the red blood cells that carry oxygen throughout the body. In December …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… served on the Scientific Advisory Boards of the Center for Stem Cell and Regenerative Medicine, the National Disease … process of generating all of the different types of blood cells (erythrocytes, lymphocytes, platelets, etc.) … from a small population of pluripotent hematopoietic stem cells. As pluripotent hematopoietic stem and progenitor …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
…  Step 4: Preparation for stem cell collection (~90 days)  Gene therapy requires stem cells to be collected from your bone marrow or blood, taken … Step 5: Stem cell collection (~6–8 weeks) The stem cell collection … round occurs over two to three days. To collect your stem cells, you will: Be admitted to the hospital for 1 to 3 days. …
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 …
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
Learn about the different types of hemoglobin.
… and gene therapy , you should first know about blood cells and the different types of hemoglobin that make up red blood cells. … Hemoglobin types and sickle cell disease  Your red blood cells contain hemoglobin , a protein that carries oxygen. Red blood cells need hemoglobin to deliver oxygen to your body’s organs …
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 …