HSAN1 Conference April 18-21, 2017

An international cadre of experts gathered in April in Boston to discuss the chemistry, biology, genetics, neuropathy, treatment, and potential for cure for HSAN1.They were joined by post-doctoral fellows, doctors, researchers, and 5 members of the Deater family. The welcome dinner provided time to fellowship and talk about funding issues and possibilities, as well as to remember Larry Deater and his dedication to this ongoing research.

Dominic Campopiano- Edenborough Scotland- discussed the basic chemistry of the biosynthesis of the enzyme serine palmitoyltransferase (SPT). The SPTLC1 gene provides instructions for making one part (subunit) of the SPT enzyme. The mutation of the gene interferes with the mechanism of the enzyme SPT. A question that remains is, “how is SPT regulated by the cell?”

Tere sa Dunn-Giroux- Bethesda Maryland- is focused on identifying and characterizing the enzymes responsible for sphingolipid synthesis, on determining how sphingolipid synthesis is regulated, and on clarifying the functions of these important lipids through a genetic and biochemical approach. The enzyme is more complex than previously thought.



Thorsten Hornemann- Zurich Switzerland- discussed the role of sphingolipids in the body. They play a major role in the neurological system- brain and nerves. We know that the blood

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Future Conference Plans

Plans for a 3rd HSAN1 conference sponsored by the Deater Foundation

The Deater Foundation has sponsored 2 HSAN1 international workshops, in 2008 and in 2010. The first set the research community on the path to investigate the possibility that the gene defect in HSAN1 involved the creation of a substance toxic to nerves. The second conference proposed that supplementation of L-serine might have positive results on the symptoms of the disease.

These conferences are extremely valuable in bringing together researchers from around the world who are each experts in their fields. Dr. Brown proposed last fall that another conference within the year would be a valuable platform to move HSAN1 research forward. This year’s conference will take place in the Boston area November 14-16. Invitations have been extended to “The Molecular Pathogenesis and Therapy of HSAN1″. As of June 2, 2013, the following plan to attend: Dr. Kurt Fischbeck, National Institutes of Health; Dr. Garth Nicholson, University of Sydney, Australia; Dr. Marc Freeman, UMass Medical School; Dr. Mary Reilly, National Hospital for Neurology, London; Dr. Vincent Timmerman, University of Antwerp, Belgium; and Dr. Anne Louise Oaklander, MGH. These researchers will bring an immense and varied amount of expertise to share.

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