On May 1, 2017, an international consortium of clinicians and scientists from multiple disciplines met in Toronto, Canada to officially launch the Synodos for Schwannomatosis project. Led by Dr. Gelareh Zadeh from University of Toronto and Dr. Laura Papi from University of Florence, Italy, the project aims to perform an extensive molecular analysis of schwannomatosis tumor samples to identify new therapeutic targets, and advance the understanding and management of the disease, with special focus on pain. Schwannomatosis is the rarest and least studied form of neurofibromatosis, and schwannomatosis patients, besides developing multiple schwannoma, often suffer from intractable pain.
The objective of the kickoff meeting was to review the common goal of the project, critically evaluate the implementation strategies, confirm the roles of different members and committees, and outline the initial work plan. Over 30 neurology, neurosurgery, genetics, and neurofibromatosis experts from institutions spread across four different countries collaboratively participated in discussions during the day-long meeting. Mr. Richard Horvitz, chair of the Children’s Tumor Foundation Board of Directors, attended as the schwannomatosis patient representative. Participants gave several presentations on the current knowledge of the genetics of schwannomatosis, impact of schwannomatosis-associated pain on quality of life, and medical advancements in allied fields that can be translated to schwannomatosis treatment and care.
This one-of-a-kind study will:
1) develop a clinically annotated schwannomatosis biobank
2) develop a comprehensive pain registry for schwannomatosis patients
3) establish the genomic and epigenomic landscape of schwannomatosis to identify disease-driving alterations
4) correlate the molecular findings with key clinical parameters, including pain.
Synodos for Schwannomatosis is funded by the Children’s Tumor Foundation and will run for two years with a budget of $1.0 million. Click here to read the NF News cover story about the generous donation made by Richard A. Horvitz and Erica Hartman-Horvitz to underwrite this initiative.
Information about Synodos for NF1 can be found here and information about Synodos for NF2 can be found here.
