$3.5 million funds study aimed at applying precision medicine to rare tumor disorder

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From the WashU Newsroom

An international leader in neurofibromatosis research has received a $3.5 million grant to study why people with the same genetic mutation – in this case, a mutation that causes the genetic disorder known as neurofibromatosis type 1 (NF1) – develop markedly different signs and symptoms.

The award — for David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor and director of the Neurofibromatosis Center at Washington University School of Medicine in St. Louis — is an inaugural Research Program Award from the National Institute for Neurological Disorders and Stroke of the National Institutes of Health (NIH). The grant provides Gutmann wide latitude; it will allow him to devote half of his efforts for the next five to eight years to solving this research problem.

NF1 can affect almost every organ system in the body. As such, people with NF1 are predisposed to tumors affecting the brain and nerves, as well as to the development of learning and attention problems, bone defects, seizures, cancer and vision loss.

A big question in the field of NF research, according to Gutmann, is how such a diversity of problems can arise in people with the same genetic mutation.

“Variety is the rule for NF1,” Gutmann said. “It is critical that we understand why people are different so we can better predict what’s going to happen next for each patient and know when we need to intervene. Studies like this are essential to implementing precision medicine strategies, not only for people with NF1, but also for patients with other related medical problems.”

The new grant allows his group to approach these questions from many angles. One team is working to expand its NF1 brain tumor modeling efforts – which currently mimic just one kind of tumor – into myriad models, in mice and in human cells, that more fully represent the full spectrum of tumor types found in people with NF1.

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Posted on April 19, 2017
Posted in: Neurogenetics & Transcriptomics, News Authors: