Research Recap

Research Recap Highlights

It was in 1986 that Dr. Robert Brown came to the Deater family reunion and drew blood from family members to begin a study of Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1) at the Day Laboratory for Neuromuscular Research at Massachusetts General Hospital. In 1989, Carol Dorward and Nancy Newcomer conceived of the idea and established The Deater Foundation to support research into HSAN1. By 1992, Dr. Khemissa Bejaoui was involved in the research at the Day Lab. In the March 2001 edition, volume 27, of the prestigious scientific journal Nature Genetics, two articles were published that were the culmination of years of research involving the Deater family and other families with HSAN1. Dr. Garth Nicholson and his team in Australia identified a genetic mutation causing the disease in patients in that country, and Dr. Bejaoui independently confirmed the mutations in other patients, including those in the Deater family. Several mis-sense mutations were identified, classified as C133W (the most common), C133Y (in the Deater Family) and V144D.

In 2004 Alexander McCampbell, then at the Day Lab, developed a mouse model for HSAN-1. Genes in mice were altered, resulting in mice with a transmutation gene for the C133W mutation. When Dr. McCampbell left the Day Lab, Dr. Florian Eichler had joined Dr. Brown at the Day Lab, and took over responsibility for the mouse studies.

On April 24, 2008 a Symposium funded by the Deater Foundation was held in Boston and brought together researchers from as far away as Switzerland and Australia to discuss the cause and treatment for HSAN1. A trial of supplemental L-serine to mitigate symptoms of the disease was suggested at this conference. In July 2008 Diane McKenna-Yasak from Dr. Brown’s laboratory collected blood samples from family members at the Deater Reunion to research specific bio-markers of the disease.

July 19, 2009 saw the initiation of a 10 week study of the effect of supplemental L-serine on HSAN1 in volunteer members of the Deater family. The study was funded by the Deater Foundation and was conducted by Dr. Brown and Dr. Eichler.

In early 2010 the Deater Foundation contributed $10,000 to a newly established Deater Foundation Fund at the University of Massachusetts, Worcester Campus, where the Medical School is located. This money was used to fund a second Symposium on HSAN1 held, in February, in Boston where, among other things, the results of the 10 week study were reviewed. Shortly before this, Dr. Brown had accepted the appointment as Chair of the Department of Neurology at the University of Massachusetts Medical School and UMass Memorial Medical Center because of its emphasis on genetics. Dr. Eichler continued the research, focusing on the HSAN1 mice, at Massachusetts General Hospital (MGH) with his own laboratory there.

Over the course of several years, Natural History studies in the form of a questionnaire and follow-up questions, developed and coordinated by the Deater Foundation, went out to affected family members. These are being analyzed by Dr. Fridman at MGH.

Much work has been done by many dedicated researchers and brave study participants to move forward the investigation into the disease that has caused pain and debility in generations of the Deater family and, as we have discovered, many other people the world over.