Latest research presentations
For years, the annual SPF conference has provided access and insight into HSP and PLS research that is going on. The SPF itself has given almost US$12 million in total research grant funding over the years. The contribution of the SP Foundation is inestimable. 2023 is yet again another great conference, with the sessions available on the SPF YouTube channel. Congratulations and a big thank you to all involved.
Below is a summary of the major presentations at the conference, time stamped for convenient viewing. If you want to stay up with the latest research, then this is a ‘must watch’.
Friday Sessions
00:39:35 Diagnosis to Hope: LIfe as an adult caregiver
3 parents of children with HSP presenting (Chris, Katie and Bridget)
Empowering parents: Acceptance to Action to Appreciation
01:24:00 Education
01:37:00 Recreation and socialization
01:48:30 Childhood onset HSP: results of 2022 Survey
Ece Filiz (SPG3A parent) and Bridget Lassig (SPG4 parent) designed the survey.
03:46:00 “Rare Across America”
Deena Landfair (SPG7) – Education and Ambassador program.
06:16:50 Clinical trial readiness for childhood-onset HSP
Dr Darius Ebrahimi-Fakhari
06:20:55 What have we learned?
06:26:40 Q&A
06:42:15 END
Saturday Sessions
01:09:30 Opportunities in HSP genomics and therapy (HSP-CERN)
Dr Stephan Züchner
01:34:20 HSP biology
Dr Craig Blackstone
01:57:30 Clinical trial readiness for HSP: lessons learned from translational research in rare diseases
Dr Darius Ebrahimi-Fakhari
02:31:20
05:38:50 Developing clinical trials for UMN diseases
Dr Hande Ozdinler
Drug candidate AKV9 (formerly NU-9)
Akava Therapeutics (Dr Silverman)
NU-9 treatment in animals
Q&A
06:43:15 End
07:54:04 Panel Q&A
With Drs Piermarini, Liang, Mukesh, Ozdinler, Ebrahimi-Fakhari, Fink and Blackstone
09:30:30 End
Sunday Sessions
00:31:20 Gene therapy approach for SPG4-based HSP: a preclinical study
Dr. Emanuela Piermarini
00:35:00 Spastin isoforms; gain/loss of function; transgenic mouse model
00:42:00 Gene therapy approach
00:52:00 Alternative directions – Drug therapy CK2 inhibitors
00:55:00 Q&A
01:11:30 End
01:12:25 HDAC6: A promising therapeutic target for SPG4
Dr Liang (Oscar) Qiang
01:15 HDAC6 insights; Marion Murray Spinal Cord Research Center;
drug testing, embryonic stem cells, brain banks, in vitro, in vivo, AI
01:22 Mouse models, spinal cord
01:31 Human brain organoids for SPG4
01:36 Outcome measures for human organoids
01:38 What did we find? Reduction of stable microtubules.
01:41 HDAC6 activated by M1 isoform; what is HDAC6? Druggable target
01:51 Tubastatin A (Tub A) known HDAC inhibitor; partially reverses axonal defects and impaired gait in SPG4 mice; partially rescues early axonal degeneration in brain organoids; no adverse effects
01:52 High-throughput analyses to identify targets for SPG4 mechanisms Proteomics and Single-cell RNA sequencing to study M1 & M87 isoforms
02:03:00 Learning from other research arenas – spinal cord injury
02:09:30 Q&A
02:15:15 End
02:38:05 Open Q&A session
Dr John Fink
03:46:15 End