Search Results
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 …
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 …
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 …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
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 …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… activated and can impair their ability to respond to acute stress," said Irini Manoli, M.D., Ph.D., lead author …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… LE, San H, Chen G, St Hilaire C, Boehm M. Stat3-dependent acute Rantes production in vascular smooth muscle cells …
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 …
Policy Issues
Genome editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals.
… Layla received a gene editing treatment to help her fight leukemia, a type of cancer. These scientists did not use …