Focus Areas in the Genomic Medicine Cycle

MGH Department/Division



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

  1. New insights into NF1 disease mechanism and discovery of therapeutic targets using Drosophila
  2. Development of NF1 therapeutics with CRISPR-based technologies
  3. Modeling signaling networks of NF1-deficient Schwann cells from plexiform neurofibromas
  4. Role of protein glycosylation in regulating sleep and circadian behavior

Lab Members

Stephanie Bouleysbouley [@] mgh.harvard.eduPostdoc
Torrey Mandigotmandigo [@] mgh.harvard.eduPostdoc
Francisco Fernandezffernandez2 [@] mgh.harvard.eduBBS Graduate Student
David Degidioddegidio [@] mgh.harvard.eduResearch Technician
Suraj Mathmathsrj1998 [@] gmail.comResearch Technician
Lab/Contact Telephone


Primary Email

jwalker [@]

Lab Website