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Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy requires stem cells to be collected from your bone marrow or blood, taken to a lab for modification, then … for 1 to 3 days. Be given a medication that causes your bone marrow to release stem cells. Require an intravenous …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… on the study. Will I (or my child) have to provide a bone marrow sample or a peripheral blood sample?  The care … is easiest to schedule your visit to NIH at a time when a bone marrow or a peripheral blood sample would have been …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… 13 years. David died in 1984 following an unsuccessful bone marrow transplant, an attempt to provide him with the … from blood forming precursors, or "stem," cells in the bone marrow. Some lymphocyte precursors move to the thymus …
News Release
Researchers are trying to understand a process whose rules are constantly being written and rewritten by cancer's rogue cells: who will more likely relapse.
… To study what may have caused the relapse specifically, bone marrow samples were taken at three specific times - … and drive blood cells that are still in production in the bone marrow to instead become leukemia cells. The gene that …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… related to iron overload. Thalassemia has been cured using bone marrow transplants. However, this treatment is possible only for a small minority of patients who have a suitable bone marrow donor. The transplant procedure itself is still …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… are easily removed from the body. Heme is produced in the bone marrow and liver through a complex process controlled by … precursors may accumulate in tissues (especially in the bone marrow or liver), appear in excess in the blood, and get …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… with RUNX1 variants, analyzing their genome, blood, bone marrow and other systems. The participants were enrolled if … The researchers also found a few clinical features in the bone marrow that may help clinicians diagnose the disorder.  …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… caused by a decreased blood platelets, lung disease, and bone abnormalities such as bone pain, fractures and arthritis. The less common Types 2 … called glucocerebroside in the liver, spleen, bone marrow and nervous system. The main type of cell that is …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… during the syndrome. Also, since ADA2 is made in the bone marrow and circulates in the blood stream, the team is … protein would help, but is not currently in development. Bone marrow transplantation or genetic manipulation of bone
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… scarring, whether it is scarring of the lungs, liver or bone marrow. The scientists found that the STAT4 genomic variants … scarring, whether it is scarring of the lungs, liver or bone marrow,” said Dan Kastner, M.D., Ph.D. , an NIH …