Human Trials

The Deater Foundation, the Deater Family, and Human Trials
Submitted by: Ellen Deater Burns, Medical Liaison

The Deater Family has been involved in human research for Hereditary Sensory and Autonomic Neuropathy type 1 (HSAN1) since Harvey and Russell Deater presented themselves for study at the Thomas Jefferson Hospital in Philadelphia in 1937. The research has gone down many paths and some dark alleys since then.

In 2000 there was a major breakthrough in determining the basis of the disease when a specific gene mutation was identified as the cause of HSAN1. The gene was known to encode an enzyme, serine palmitoyl transferase; that is the first step in synthesizing a fatty substance known as ceramide that then is involved in the synthesis of another fatty substance known as sphingolipids. Dr. Garth Nicholson and his team from Australia, and Dr. Robert Brown, Jr. and Dr. Khemissa Bejaoui in Boston published the results of this discovery in 2001. The Deater Foundation supported the work of Drs. Brown and Bejaoui.

In subsequent years, much more has been learned about the cellular pathology of HSAN1. At a Deater Foundation sponsored international conference in 2008, Dr. Thorsten Hornemann proposed that a toxic property, resulting from defective cell receptors, was causing elevations of atypical sphingolipoids and the symptoms of HSAN1.

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