Children's Tumor Foundation harnesses interest in rare disease research through NF Innovation Week

Neurofibromatosis (NF), a genetic disorder that causes tumors to grow on nerves throughout the body and which affects 1 in 3,000 people - that's over 2.5 million worldwide - has no cure and few workable treatment options. But new research is offering novel insights into the disease and generating enthusiasm that effective therapeutics are on the horizon to benefit those living with NF.

The Children's Tumor Foundation, the nonprofit global leader in NF research, is harnessing this revitalized interest in rare disease research through a series of events being held in San Francisco, called NF Innovation Week. These events are:

• NF Hackathon: data scientists, artificial intelligence experts, and engineers - mostly new to the NF field - will gather at the Google Launchpad for three intensive days (Sep 13-15) to 'hack' genomic, research, and imaging/clinical data from the NF Data Portal, and bring their unique insights and experiences to help accelerate NF medical research. This event merges the fields of genomic medicine, computer science, statistics, and bioinfomatics, and the winners of the hackathon will present their findings at the NF Conference, the world's largest conference of NF experts (details below).
• NF Forum: patients, families, and caregivers will convene for two days (Sep 20-21) to hear about promising research, meet with world-class NF experts, and participate in patient advocacy sessions. All forms of neurofibromatosis will be covered - NF1, NF2, and schwannomatosis, as well as quality of life issues for the myriad manifestations of NF, which can cause deafness, blindness, bone abnormalities, learning disabilities, disabling pain, and cancer.
• NF Conference: this four-day global meeting (Sep 21-24) attracts leading specialists from across a wide range of scientific disciplines and research and clinical backgrounds, all focused on improving outcomes for patients. This annual event is the most important date on the NF research calendar, and is critical to consensus building and advancing basic, translational, and clinical research in NF and related fields.

Among the key advances to be presented at the NF Conference are:

• revised diagnostic criteria for all forms of neurofibromatosis, including a potential name change for NF2
• natural history studies that are increasing knowledge of NF and improving treatment options
• gene editing and gene therapy options in NF
• the role of NF genes in predicting, preventing and curing cancer
• innovative animal models, including pig models designed and funded by CTF

The Children's Tumor Foundation's strategic approach is centered around two key principles: discovery and acceleration. The discovery focus is geared towards increasing our knowledge of the underlying mechanisms of NF, in order to develop more targeted therapeutics and to decrease risk for patients. This is done through the Foundation's Young Investigator Awards, Drug Discovery Initiative, and Clinical Research Awards, among others. The Foundation's acceleration approach is geared towards breaking down barriers through a collaborative approach, open source data, and an NF platform that attracts pharma and biotech to the NF space, and helps 'de-risks' research about a somewhat still relatively not-well-known disease. This is done through the Foundation's Synodos research teams, the NF Data Portal, NF Registry, and NF Platform, among others.

Significantly, NF research has application towards cancer research (the NF gene in particular), and the CTF strategic model has application towards other disease areas, including cancer. These principles and ideas (and results) will all be on display throughout the week. Even more unique, with patients coming into town for the NF Forum, they will also participate at the science events (NF Hackathon and NF Conference). Much as the patient forum is 'bookended' by each of the science meetings this week, patients are at the center of all of these events.