Confronting the Challenge of Neurofibromatosis

Author: CDMRP Neurofibromatosis Research Program, Douglas C. Miller, MD, PhD; University of Missouri School of Medicine

Published On: 06/15/2018

NFRP 2018 Investigator Vignette

Neurofibromatosis as a name encompasses at least three diseases in fact. They are called neurofibromatosis type one, neurofibromatosis type two, and Schwannomatosis. So each of these are genetic disorders that involve, in most cases, a cell in the body called a Schwann cell, which results mostly in syndromes where there are tumors of particular types that are different for each of the three diseases.

So we have these three different diseases, and they’re all different. They have a different genetic basis.

In general, most physicians don’t know a lot about this, and most scientists aren’t interested in most of the problems here because funding, to be frank, if you’re going to be a scientist competing for grant money, there’s more funding for more common diseases. And so, it’s hard to interest people, except if there’s an intellectual problem that they would like to solve.

So recruiting more people into the field is a goal for the CDMRP and—and in general for the field of neurofibromatosis research. One of the things that the research program for the Department of Defense does is there’s a new investigator award mechanism to attract young people just coming out of, say graduate school or post-doc fellowship, who would look at this and say here’s an area of interest that I could get involved in, have a career in.

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