Research funded by the Children’s Tumor Foundation (CTF) and led by Ludwine Messiaen, PhD, professor of genetics at the University of Alabama at Birmingham (UAB), has shown that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disorder neurofibromatosis (NF) type 1, thereby improving the predictability of this condition when these specific mutations are present in an individual. This work was published today in the American Journal of Human Genetics.
An article about the Children’s Tumor Foundation-funded International Schwannomotosis Database that was published in a recent issue of American Journal of Medical Genetics was just added to the PubMed US National Library of Medicine, a database hosted by the National Institutes of Health that houses more than 27 million citations for biomedical literature.
Early research funded by the Children's Tumor Foundation has led to developments in schwannomatosis research. One award (2008) was for the development of the first mouse model for schwannomatosis with the same underlying gene mutations found in schwannomatosis patients. The second award (2011) was to support their use in a screening platform for schwannomatosis therapeutic agents.
The August issue of EMBO Molecular Medicine features an article authored by Children’s Tumor Foundation President and Chief Scientific Officer Annette Bakker, PhD, and Salvatore La Rosa, PhD, Children’s Tumor Foundation VP, Research & Development about the larger role foundations are playing within the rare disease research ecosystem. EMBO Molecular Medicine is a peer-reviewed, online open access journal dedicated to a new research discipline at the interface between clinical research and basic biology.
The NF Registry is delivering on its promise to be a valid and useful tool for both patients and researchers. This is the conclusion of an analysis published in the journal PLOS One in June 2017. Not only are thousands of patients from all over the world contributing their data to the Registry, it is being actively used, and appreciated, by researchers working on all forms of NF.