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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.
Click here to join Zoom

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.
Click here to join Zoom

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

HSAN1 Symposium Day 1 Recording

HSAN1 Symposium Day 2 Recording