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Announcing the 2010 YIA Recipients

By August 20, 2010December 5th, 2023Awards & Grants, Awareness

Congratulations to this year’s Young Investigator Awardees!

Nicolas-Xavier Bonne, MD, House Ear Institute
Analysis of tumor development after stereotactic radiosurgery in NF2 mouse models
Use of radiosurgery and radiotherapy for NF2 management is highly controversial, with some physicians utilizing this and others not. There are differences of opinion as to whether observation, microsurgery or radiosurgery is more effective in hearing preservation, and whether this treatment may induce malignancy.  Dr. Bonne will use NF2 mouse models to endeavor to address these important questions, treating the mice with radiotherapy and evaluating the short- and long-term outcomes.

Thomas DeRaedt, Ph.D., Harvard Medical School/Brigham and Women’s Hospital
Combination Therapy for NF1 associated MPNST
Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are a rare but devastating and lethal tumor that can develop in NF1 from plexiform neurofibromas. Building on the established finding that Rapamycin will have some effect on inhibiting NF1 tumor growth, Dr. DeRaedt uses mouse models of MPNSTs to test new combination drug treatment approaches for these difficult to manage tumors.

Jean Gouzi, Ph.D., Harvard Medical School/ Massachusetts General Hospital
Identification of novel molecular modifiers of NF1 learning disabilities in Drosophila
Dr. Gouzi takes new approaches to understanding NF1-related learning disabilities by using the fruit fly to look at novel genetic regions that have been identified and may have a role in regulating NF1 gene function.  Fruit flies  make terrific models for studying learning behavior as have well established genetic homology (parallels) with humans allowing for the translation of results from flies to humans; and they can be assigned tasks and responses measured. As a result, by using flies with different genetic mutations or after they have received a drug treatment, new genes may be identified that are contributing to the learning defect and therefore represent future candidate drug targets.

Azar Omrani, Ph.D., Erasmus Medical Center, The Netherlands
Role of the neuron-specific isoform of neurofibromin in learning and synaptic plasticity
Dr. Omrani seeks to better understand learning disabilities in NF1 with an eye on developing clinical interventions (the primary focus of the laboratory in which he will be doing this research). She will focus on a special modified version of NF1 protein which is generated by a specific NF1 genetic element called exon9a and which plays an important role in regulating neuronal function in the normal brain. Mice lacking exon9a have learning deficits and Dr. Omrani will focus on whether understanding this can be harnessed to develop treatments for persons with NF1 learning disabilities.


Maryam Jahanshahi, Mount Sinai School of Medicine, New York
Identifying and characterizing novel effectors of Merlin that have a role in NF2 cell growth
This study will utilize fly models of NF2 to examine the potential roles of new NF2 gene regulators in causing cell growth, with the goal of identifying new drug targets for NF2 treatment. Of particular interest Ms. Jahanshahi will endeavor to identify genes that are expressed at different levels in different individuals and may help explain why NF2 can affect persons with different levels of severity.

Sherry Phillips, Indiana University
Neurofibromin’s role in sensory neuronal sensitization
Ms. Phillips focuses on an important but understudied aspect of NF1, which is to understand the fundamental causes of why individuals with NF1 can experience enhanced pain. This study focuses on cell signaling elements adenylyl cyclase (AC) and cAMP, and the underpinnings of their role in NF1 pain. The goal is to determine why there are enhanced pain sensations in NF1 and help elucidate future clinical management approaches.