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Tomchik Lab Awarded New DOD CDMRP Grant to Study How NF1 Modulates Motor Activity

July 1, 2024


Neurofibromatosis type 1 increases the incidence of cognitive and behavioral disorders, such as attention-deficit/hyperactivity disorder (ADHD). A new grant from the Neurofibromatosis Research Program (DOD/CDMRP) will fund research into how NF1 affects brain function, leading to changes in behavior.





Genetic neurodevelopmental disorders clearly affect the brain and nervous system, as well as affecting other bodily functions. For instance, the genetic disorder neurofibromatosis type 1 (NF1) causes tumors and alters susceptibility for cognitive and behavioral disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Prior research from our lab revealed that genetic mutations underlying Nf1 alter brain function.


How do the genetic mutations that cause NF1 alter brain function and behavior? What are the molecular and neuronal circuit mechanisms?

A new grant from the Neurofibromatosis Research Program, awarded by the Department of Defense Congressionally-Directed Medical Research Program, will fund a 3-year study in the Tomchik lab to dissect the mechanisms of NF1 effects on the brain and behavior.


NF1 is caused by mutations in a gene that encodes a protein called neurofibromin. This protein is a tumor suppressor, and when it is lost, individuals are predisposed to a range of benign tumors and cancers. In addition, neurofibromin plays a signaling role in multiple cell types throughout the body, including the neurons in the brain. Loss of neurofibromin alters neuronal function - in relatively subtle ways - increasing the risk for ADHD and ASD (among other comorbidities).


NF1 may affect brain function in both humans and animal models. The genetic mutations underlying NF1 likely alter function at the molecular level and neuronal circuit levels. To investigate the NF1 link to alterations in brain function, we are examining whether neurofibromin modulates metabolism in the fruit fly, Drosophila melanogaster, which shares fundamental features of brain function with other animals and humans. Preliminary studies pointed to several candidate molecular and neuronal circuit mechanisms of behavioral alterations in NF1.


Following up on our preliminary observations, this new grant will dissect the mechanisms of NF1 effects in the brain, laying the groundwork for potential downstream development of novel therapeutic strategies to treat NF1. We thank the DOD/CDMRP NFRP for supporting this research.





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