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.
Advances in biochemistry and genetics have opened potential new avenues of research regarding the HSAN1-associated mutations in the SPT gene. Dr. Brown reports, “two important facilities at UMMS provide an almost unique set of resources for dealing with dominantly acting disease genes. One of these is the set of laboratories that have expertise in using small, inhibitory RNA to shut off genes. Another key resource is the Gene Therapy Center where novel viruses have been discovered that facilitate delivery to the nervous system.” RNA, or ribonucleic acid, performs multiple vital roles in the coding, decoding, regulation, and expression of genes. New therapies offer the potential to turn off in the body the mutant gene that causes HSAN1 and to try this therapy in the HSAN1 mice, using specific viruses to move the RNA into the nervous system. This would be an entirely new approach to research in this disease.
The conference participants will review the progress made to date with the mouse studies and the human clinical trial and then will engage with the many still unanswered questions about the disease:
- When does the disease start, and when should treatment start?
- What do we know about the natural history of the disease?
- Are there modifiers such as diet or other genes?
- What is the relationship of HSAN1 to other neuropathies?
- What other therapeutic modalities may be possible?
- Can symptom management be improved?
- How can clinical assessment be done more accurately and quickly?
The Deater Foundation has limited resources. The Foundation Board has approved the allocation of $10,000 of the contributions on hand to fund the fall workshop, in the effort to further research into the cause and cure for HSAN1. Your contributions to the Deater Foundation are what make these steps forward possible. Thank you for your continued support of your family and friends.