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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.) … Dacosta L, Mohandas N, Elliott G, Bodine DM. A transgenic mouse model demonstrates a dominant negative effect of a …
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 …
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
Sickle cell disease resources for patients
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… before it is complete. … Step 4: Preparation for stem cell collection (~90 days) Gene therapy requires stem cells to be collected from your bone marrow or blood, taken …
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 …
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 …