HSAN1 Symposium 2022 Agenda
Friday, September 9 and Saturday September 10, 2022
From Research Bench to Therapeutics
Meeting times are scheduled to accommodate various time zones:
Friday, 10:00 a.m. to 5:30 p.m. and Saturday 10:00 a.m. to 1:00 p.m.
Eastern Daylight Time (GMT – 4)
The Symposium is hosted by the UMass Chan Medical School in collaboration with Massachusetts General Hospital and the Deater Foundation, Inc.
The meeting will be held on Zoom. Please see the link below:
HSAN1 Symposium Zoom Link for both days
There is time planned at the end of the meeting to answer questions of general interest from those attending.
Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1) is a rare autosomal dominantly inherited neuropathy, clinically characterized initially by a loss of distal peripheral sensory and motoneuronal function. Mutations in subunits of serine palmitoyltransferase (SPT) have been linked to the majority of HSAN1 cases.
Friday, September 9, 2022, 10 a.m. to 5:30 p.m.
|
|
| 10:00 a.m. | Ellen Deater Burns and family, Robert H. Brown, Jr., D.Phil, M.D., and Florian Eichler, M.D. Welcome & Introductory Comments |
| I. HSAN1 - Clinical and Molecular Update | |
| 10:15 a.m. | Florian Eichler, M.D. Clinical Spectrum of SPTSSA Related Disease: from Mice to Human |
| 11:00 a.m. | Ingo Kurth, M.D. Overview: Genetics of Inherited Hereditary Sensory and Autonomic Neuropathy |
| BREAK | |
| II. Update - HSAN1 Models | |
| 1:00 p.m. | Hongjie Zhang, Ph.D. Models - worms |
| 1:30 p.m. | Theresa Dunn, Ph.D. Models - yeast |
| 2:00 p.m. | Robert Burgess, Ph.D. Models - mice |
| BREAK | |
| III. SPTLC1 Motor Neuropathy | |
| 3:00 p.m. | Payam Mohassel, M.D./Carsten Bonnemann, M.D. SPTLC1 Motor Neuropathy |
| 3:30 p.m. | Claire Le Pichon, Ph.D. Models - Mice |
| IV. Deoxysphingoid bases in HSAN1, diabetic neuropathy and beyond | |
| 4:30 p.m. | Thorsten Hornemann, Doctor rer. nat. Deoxysphingoid bases in HSAN1, diabetic neuropathy and beyond |
Saturday, September 10, 2022, 10 a.m. to 1:00 p.m.
|
|
| V. HSAN1 Therapies | |
| 10:00 a.m. | Florian Eichler, M.D./Vera Fridman, M.D. Small molecules and other approaches |
| 11:00 a.m. | Huiya Yang, Ph.D. Biologic therapies |
| 11:30 a.m. | Vincent Timmerman, Ph.D. Neuropathy Screening NP4Video |
| 12:00 p.m. | ALL General Discussion |