Search Results
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… of acute chest syndrome and need fewer blood transfusions. Bone Marrow Transplantation: The Only Cure: Currently the only cure for sickle cell disease is bone marrow transplantation. In this procedure a sick patient …
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
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
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
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 …