Focus Areas in the Genomic Medicine Cycle
Major leadership positions
Co-Director, Mass General Neuroscience
My lab has been primarily working on understanding the pathophysiology of two different inherited neurocutaneous syndromes, Neurofibromatosis 2 (NF2) and Tuberous Sclerosis Complex (TSC). We have collaborative studies with investigators outside MGH for these studies. We also collaborate with Dr. Xandra Breakefield and Dr. Casey Maguire labs for gene therapy studies of NF2 and TSC.
- For NF2, employing patient-derived cellular models, we investigate cell signaling pathways and gene expression through transcriptome to identify drug targets that could be translated to the clinic. Our work has led to clinical trials of NF2 patients and sporadic meningioma in collaboration with Dr. Scott Plotkin at MGH.
- For TSC, we use patient-derived iPSCs and CRISPR/CAS9 edited isogenic iPSCs and neural progenitor cells (NPCs) to define early neurodevelopmental phenotypes, transcriptional and translational changes at the genome level and perform large-scale drug screening studies. Our goal is to understand the TSC-associated neuropsychiatric defects and how it relates to idiopathic autism spectrum disorders and epilepsy since TSC patients exhibit many CNS defects including epileptic seizures, intellectual disability and autism.
|Roberta Beauchamp||beauch [@] helix.mgh.harvard.edu||Lab manager/Senior Res technologist
|Pauline Martin||PMARTIN12 [@] mgh.harvard.edu||Research Scientist
|Srirupa Bhjattacharyya||SBHATTACHARRYA [@] mgh.harvard.edu||Postdoctoral research fellow
|Christine Panza||cpanza [@] bu.edu||Undergraduate student (non-employee)