A Gift to End to Neurofibromatosis Tumors
Date: January 1, 2013
Neurofibromatosis type 1 (NF1) can cause a variety of devastating problems for the thousands of people worldwide who have the syndrome, including learning disabilities, stroke, bone and skin deformities, nerve damage, spinal cord compression, and in some cases, cancer. One of the most common and most troubling tumors that affect patients with NF1 are plexiform neurofibromas, says neurologist Jaishri Blakeley. These tumors, which occur in up to half of patients with NF1, grow within the nerves deep in the body. Though surgery is the only way currently to address plexiform tumors, Blakeley explains, it’s usually a last resort—surgery can be disabling, and the tumors often recur anyway. A possibly more effective approach would be drug therapies that shrink the tumors or prevent their growth altogether. But despite decades of study, she says, researchers are still struggling to find therapies to help patients with plexiform tumors.
That situation could change in the not-so-distant future with the aid of a $27 million grant that Johns Hopkins recently received from an anonymous donor, earmarked to fast-track the development of therapies just for plexiform tumors. Blakeley is leading this new effort, named the Neurofibromatosis Therapeutic Acceleration Program (NTAP).
The vision of NTAP is to focus resources—namely time, expertise and dollars—on the specific problem of identifying and supporting the most promising opportunities for therapies against plexiform neurofibromas. The research programs supported by NTAP focus on therapeutics and fostering collaboration between scientists both within and outside of the neurofibromatosis research community.
Blakeley says she sees her role as a “talent scout.” She spends her time identifying the scientific needs in the field and then recruiting researchers and building programs to address those needs. Much of the money is used to fund research grants to scientists, around the world and from any discipline, whose work addresses critical gaps and fulfills the NTAP mission. The first NTAP awards will be announced in December of this year.
Eventually, says Blakeley, the new program could help realize her dream to end plexiform tumors for patients with neurofibromatosis.
“It’s a very frustrating place to be as a physician, to know your patient’s tumor is going to grow and there’s nothing available to stop it,” Blakeley says. “We are grateful for this very generous gift to push the development of new therapies from a family that really understands the needs of patients.”
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