Neurofibromatosis in Biological News

Gene's newly explained effect on height may change tumor disorder treatment

... into an old mystery, revealing why patients with neurofibromatosis type 1 are frequently shorter than their peers. ... focused on to understand cancers in patients with neurofibromatosis type 1," says Washington University neurologist ... neurologist who treats individuals with neurofibromatosis at St. Louis Children's Hospital. "Given that ...

Chromosomal problems affect nearly all human embryos

... an X-linked disorder or the microdeletions (loss of a tiny piece of a chromosome) that can cause such disorders as the cancer predisposition syndrome neurofibromatosis type 1. The embryos are screened to avoid the implantation of one carrying that abnormality. Such embryos are the most representative of normal human ...

In just 5 years, gene discovery to clinical trial of potential treatment

... year phase 2 clinical trial, which began in 2007, is evaluating the FTI drug lonafarnib. In clinical studies in people with myeloid leukemia, neurofibromatosis and other conditions, FTIs' side effects were minimal. The 2003 discovery of the HGPS gene, named lamin A (LMNA), laid the groundwork for the ...

Anti-cancer drug prevents, reverses cardiovascular damage in mouse model of premature aging disorder

... Tipifarnib belongs to a class of drugs known as farnesyltransferase inhibitors (FTIs), which are being tested in people with myeloid leukemia, neurofibromatosis and other conditions. The team had previously found that FTI drugs could reverse structural abnormalities in skin cells taken from progeria patients ...

Statin does not appear helpful for children with learning disabilities caused by genetic disorder

... Use of simvastatin by children with neurofibromatosis type 1 (NF1), a genetic disorder that can cause learning disabilities, did not result in improved cognitive function, according to a study in the ...

UAB wins $5.7M neurofibromatosis grant

... point for the government funds. Bruce Korf, M.D., Ph.D., chair of the UAB Department of Genetics and an internationally recognized expert in neurofibromatosis type 1, said the goal of the consortium is to streamline and improve the way clinical trials are performed for this disease, and to break down past ...

Potential treatments for neurofibromatosis

... neurofibromatosis can leave its patients miserable and debilitated ... and allergic reactions. Mast cells play a role in neurofibromatosis because they also are involved in blood vessel ... in tumor formation in these malignancies." neurofibromatosis results from mutations in a gene called NF 1. In ...

Mouse brain tumors mimic those in human genetic disorder

... developed mouse model of brain tumors common in the genetic disorder neurofibromatosis 1 (NF1) successfully mimics the human condition and provides unique ... ML, Garbow JR, Perry A, Hernandez MR, Gutmann DH. Natural history of neurofibromatosis 1-associated optic nerve glioma formation in mice. Annals of Neurology, ...

Genetic fingerprints identify brain tumors' origins

... death in children, and the most common childhood brain tumor is the pilocytic astrocytoma (PA). Approximately 15 percent of all PAs are linked to neurofibromatosis 1 (NF1), a genetic condition that causes childhood brain tumors and is a primary focus of Gutmann's research. However, the genetic basis for the ...

Recreating 'Flowers for Algernon' with a happy ending

... of learning disabilities. The Nov. 8 issue of Current Biology reports the findings, which were studied in mice bred to develop the disease, called neurofibromatosis 1 (NF1). The results proved so hopeful, that the Food and Drug Administration approved the use of the drugs in three clinical trials currently ...

Anti-cancer drugs may hold promise for premature aging disorder

... at NHGRI reported that drugs known as farnesyltransferase inhibitors (FTIs), which are currently being tested in people with myeloid leukemia, neurofibromatosis and other conditions, might also provide a potential therapy for children suffering from Hutchinson-Gilford Progeria Syndrome, commonly referred to ...