Finding hidden genetic causes of hereditary spastic paraplegia
Official title: Genome Studies in Hereditary Spastic Paraplegia- Beyond the Exome
Funded at University of Miami School of Medicine · NIH-11401447 · Data updated 2026-11-12
Using whole genome sequencing to find genetic causes for people with hereditary spastic paraplegia whose earlier genetic tests came up inconclusive.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Miami School of Medicine NIH-funded |
| Lab location | 1 site (Coral Gables, United States) |
| Project start | February 1, 2011 |
| Project end | February 28, 2027 |
| Funding year | 2026 |
| Award (this year) | $559,581 |
| NIH project number | 5R01NS072248-15 |
| Project ID | NIH-11401447 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with hereditary spastic paraplegia (familial or sporadic) who had negative or unclear results from prior exome testing and who can provide DNA samples and clinical information are ideal candidates.
✕Less likely to help
Patients whose condition is clearly caused by non-genetic factors or who cannot provide samples or clinical records may not receive direct benefit from this work.
What this research studies
You would be part of an effort that gathers clinical information and DNA from people with hereditary spastic paraplegia and related conditions. The team will use whole genome sequencing (WGS) and advanced bioinformatics (their GENESIS software) to search beyond the exome for deep intronic changes, structural variants, uniparental disomy, and other hard-to-detect genetic causes. The project expands a large existing collection of genetic and clinical data and works with a network of collaborating scientists and patient groups. Findings aim to improve diagnosis and help prepare for future gene-targeted therapies.
Why it matters
Potential benefit: If successful, this could provide more precise genetic diagnoses and open the door to targeted treatments for people with HSP.
How similar studies have gone: Previous exome-based work solved about 30% of families and other groups using WGS and deep-sequencing approaches have successfully identified additional genetic causes, so this builds on emerging, promising methods.
Where this research is happening
-
University of Miami School of Medicine
Coral Gables, United States Active
Researchers
- Principal investigator: Zuchner, Stephan — University of Miami School of Medicine
- Study coordinator: Zuchner, Stephan
Related research
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A small NIH grant is funding a therapy aimed at reducing mutant M1 spastin protein to help people with SPG4-HSP, a gradual leg-weakening neurodegenerative condition.
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Researchers are using genetically modified rats and patient-derived stem cells to learn how gene mutations cause nerve fiber damage in people with hereditary spastic paraplegia.
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This study is looking at how certain genes affect movement problems in children with hereditary spastic paraplegia and is testing new treatments that might help improve their nerve function and overall health.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.