UK HSP Support Group 2026: Re-thinking HSP, a comprehensive Genomic and Clinical approach
UK HSP - Hereditary Spastic Paraplegia
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1ヶ月前
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2026年08月06日
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This video was recorded at our 2026 AGM.
Lorenzo Perilli from University College London (UCL) talks about genetic testing for HSP, outlining an upcoming project.
01:30 Overview of HSP
02:24 Original HSP classification
03:18 Back to basics on genetics
05:47 Biological mechanisms of HSP
07:19 Differences between "pure" and "complex" HSP
09:46 How genetic testing has changed over time
12:02 Interpreting genetic test results
13:40 Deciding if a variant causes disease
15:07 Testing DNA variants with cells and models
16:47 Current genetic landscape of HSP - unknown genes/types
17:58 Project to bridge the diagnostic gap - aims
19:32 Target cohorts of people
20:21 Why do this at UCL?
21:40 Other work - a new type of complex HSP
23:02 Pathway for the pilot study
26:15 Potential project timeline
27:49 Acknowledgments
28:00 Open day at UCL in 2027
Lorenzo Perilli from University College London (UCL) talks about genetic testing for HSP, outlining an upcoming project.
01:30 Overview of HSP
02:24 Original HSP classification
03:18 Back to basics on genetics
05:47 Biological mechanisms of HSP
07:19 Differences between "pure" and "complex" HSP
09:46 How genetic testing has changed over time
12:02 Interpreting genetic test results
13:40 Deciding if a variant causes disease
15:07 Testing DNA variants with cells and models
16:47 Current genetic landscape of HSP - unknown genes/types
17:58 Project to bridge the diagnostic gap - aims
19:32 Target cohorts of people
20:21 Why do this at UCL?
21:40 Other work - a new type of complex HSP
23:02 Pathway for the pilot study
26:15 Potential project timeline
27:49 Acknowledgments
28:00 Open day at UCL in 2027
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