Focus Areas in the Genomic Medicine Cycle
MGH Department/Division
Neurology
Overview
Developing new approaches for NF1 therapeutics.
| Our research focuses primarily on neurofibromatosis type 1 (NF1), a genetic disorder with an incidence of one in 3,000–4,000 people. Most adults with NF1 develop neurofibromas – benign, but often disfiguring, tumors associated with peripheral nerves. About 10% of NF1 patients develop malignant peripheral nerve sheath tumors (MPNSTs), which carry a poor prognosis and are often fatal. We utilize a combination of genetic, molecular and biochemical approaches and both animal and human cell models to improve our mechanistic understanding of NF1 and identify therapeutic targets. |
Priority Projects
- New insights into NF1 disease mechanism and discovery of therapeutic targets using Drosophila
- Development of NF1 therapeutics with CRISPR-based technologies
- Modeling signaling networks of NF1-deficient Schwann cells from plexiform neurofibromas
- Role of protein glycosylation in regulating sleep and circadian behavior
Lab Members
| Name: | Email: | Role: |
|---|---|---|
| Stephanie Bouley | sbouley [@] mgh.harvard.edu | Postdoc |
| Torrey Mandigo | tmandigo [@] mgh.harvard.edu | Postdoc |
| Francisco Fernandez | ffernandez2 [@] mgh.harvard.edu | BBS Graduate Student |
| David Degidio | ddegidio [@] mgh.harvard.edu | Research Technician |
| Suraj Math | mathsrj1998 [@] gmail.com | Research Technician |
Lab/Contact Telephone
617-569-4671
Primary Email
jwalker [@] helix.mgh.harvard.edu
The Center for Genomic Medicine (CGM) comprises one of the largest and most vibrant hubs of genomic medicine research in the world. The CGM includes 46 faculty collaborating to define the ‘genomic medicine cycle’ – which envisages a genomics community seeking to advance research from basic genomics research to ultimately using genome information for diagnostics and targeted therapeutics. All of our investigators are faculty at Harvard Medical School, and many members of our community are also investigators at the Broad Institute of Harvard and MIT.
