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… Researchers discover key mutation in acute myeloid leukemia …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… AK . Cryopyrin-associated periodic syndrome caused by a myeloid-restricted somatic NLRP3 mutation . Arthritis …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… vessels, resulting in lung tissue damage that causes acute chest syndrome, pain episodes, stroke and priapism … treated with hydroxyurea also have fewer attacks of acute chest syndrome and need fewer blood transfusions. Bone …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… hope to develop new therapies to treat patients with leukemia using their own iPSCs. We encourage other …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… and sickle cell disease) and acquired disorders (e.g., leukemia) have been treated with gene therapy. …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… cancers, sarcomas, colon cancers, bladder cancers and leukemia. Future studies are looking towards detecting the …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… a protein which contains copper. However, in people with acute liver failure caused by Wilson disease, copper levels … health. However, for patients who have severe cirrhosis, acute liver failure or other serious liver disorders, a liver …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… in tumors. Children with a common type of childhood leukemia can be tested to find the right doses of …
File
… During Induction Treatment Period in Children with Acute Lymphoblastic Leukemia in Sri Lanka. 2020. (In Preparation). 13. Baatar N , … Due to Warburg Effect in a Child Presenting with T Cell Acute Lymphoblastic Leukaemia: a Milder Phenotype. BMJ Case …