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Lab Phone: 617-569-4671
Research Investigator Profile
Center for Human Genetic Research
MGH Cancer Center
Alexander Fleming Institute, Greece
James A. Walker, PhD
We use Drosophila as a model system to study orthologs of genes involved in several human neurological diseases. Genetic screens, combined with biochemical, molecular and cellular biological techniques provide a powerful to approach to uncovering the signaling pathways involved in disease processes.
a) Neurofibromatosis type-1 (NF1) is a common genetic disease for which there is currently no effective therapy. Patients with mutations in the tumor suppressor gene NF1 are predisposed to benign and malignant tumors, many of which affect the peripheral and central nervous system (CNS). By studying the function of NF1 in growth control and learning/memory in Drosophila we are uncovering novel signaling pathways regulated by NF1 that may provide possible therapeutic targets.
b) Schwannomatosis is characterized by multiple spinal, peripheral, and cranial nerve schwannomas. Recently we have been using Drosophila to shed light on the role of the tumor suppressor genes NF2 and SMARCB1 in this disease.
c) We are also using Drosophila to study the normal function of Huntingtin (Htt), the gene responsible for Huntington’s Disease. Considerable work has been conducted on the mutant form of Htt, which contains polyglutamine repeats. However, it is likely that loss of normal Htt function also contributes to disease progression and it is hoped that Drosophila will be useful as a model system for determining the normal roles of Htt.
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Bernards Lab, Center for Cancer Research
Gusella Lab, CHGR
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