According to a story from EurekAlert!, a collaboration of Sage Bionetworks, The Children’s Tumor Foundation (CTF), and the Neurofibromatosis Therapeutic Acceleration Program (NTAP) have announced the initiation of the very first open data portal for research related to the rare disorder neurofibromatosis. Officially called the NF Data Portal, the resource will provide a useful reference for researchers and also heralds the first step in the partners’ endeavor to develop the NF Open Science Initiative (NF-OSI).
Neurofibromatosis is a genetic disorder that has impact on a number of the human body’s functional systems. Neurofibromatosis is caused by a mutation of a gene which is responsible for the production of the protein neurofibromin. This mutation can be heritable, but about half of cases are the result of spontaneous mutation. Symptoms of the disorder include epilepsy, hearing loss, tumors affecting the nervous system and skin, spots on the skin, scoliosis and other skeletal deformations, learning and mental impairment, and vision disorders. People with the disorder also have greater risk of cardiovascular disease and cancer compared to unaffected people. The severity of symptoms can vary greatly; some people live fairly typical lives, whereas others are faced with serious quality of life challenges. There is no cure, and treatment generally involves managing serious symptoms and complications as they appear. To learn more about neurofibromatosis, click here.
Challenges in Neurofibromatosis
Neurofibromatosis is a difficult disease to study because of the variability of the presentation. Some symptoms that may be severely affecting one patient may be almost negligible or nonexistent in another. Naturally, this also results in difficulty with treatment and diagnosis. Lack of treatment options means that many patients are forced to wait until their symptoms progress before getting treated, leaving patients and caregivers forced to respond to developments as they appear instead of having the initiative to treat the disease earlier.
The NF Open Science Initiative
The NF Open Science Initiative, which was first started by the CTF, aims to put and end to these challenges. The project is aimed at supporting the efforts of researchers every step of the way and will also be open to anyone who wants to learn more. The NF Data Portal eventually aims to include data from as many studies involving neurofibromatosis as possible.
You can check out the NF Data Portal here.