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.

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