Monday kicked off with a session focused on cognitive deficits of NF1 tackling topics such as the challenges of translating learning disabilities mouse research findings into human trials, as well as molecular drug target updates. This included results from testing drugs in learning disabilities fruit fly models (a well received presentation from Foundation-funded Young Investigator Linnea Vose). It is emerging that the clinical features of NF1 cognitive deficits are driven by many things in the brain, including potentially the way that some of the neurons (nerve cells) develop and ‘wire up’ in the first place. Learning disabilities continues to be a really exciting and fast moving area of NF1 research.
Among today’s NF2 presentations Vijaya Ramesh reported that cell signaling element mTORC, long recognized as an important candidate drug target for the treatment of NF1 tumors, may also be a key drug target in NF2 tumors meningioma and vestibular schwannoma. For example rapamycin which targets mTORC was able to shrink meningioma tumor cells – which are overly large – back to a more normal size.
The theme of the 2009 NF Conference is ‘New Frontiers’, a nod to the remarkable progress made in NF research and the tackling of new challenges, such as sorting through emerging clinical trial options. However, some truly brand new frontiers remain. Schwannomatosis, the rarest form of NF, causes peripheral nerve tumors and unmanageable pain. A candidate gene for schwannomatosis, called INI1, was identified just two year ago, but many mysteries remain. Are NF2 mutations also involved in schwannomatosis? What about other genes? Some of these issues were addressed in a session Monday morning. A major challenge to answering these questions is lack of patients, since many clinics will at most see only a handful of schwannomatosis patients, and a lot of the patients are being seen elsewhere perhaps in pain or plastic surgery clinics. For this reason the Children’s Tumor Foundation is supporting a special initiative to establish a collaborative schwannomatosis database that will collect patient data from as many clinics as possible. On Monday evening representatives from about ten clinics US and international met to hammer out the questions this database must ask – these need to be detailed enough to make the data collected ‘mineable’ (searchable, meaningful) to identify patients for follow up studies. Also though, at the first cut, the amount of data to be entered can’t be too onerous as to put clinics off taking the time to enter it. The Foundation is providing initial funding to get this database up and running, but perhaps our most important role in this will be to encourage and drive as many clinics as possible to participate. We are very fortunate that this effort is being driven the enthusiastic Allan Belzberg and Amanda Bergner at Johns Hopkins and excited to see it move forward.
