University of Miami · GeneticsHereditary Spastic Paraplegia Research Unit
Stephan Zuchner · Coral Gables, Florida
Research Focus
Dr. Stephan Zuchner's lab at the University of Miami School of Medicine focuses on understanding hereditary spastic paraplegia (HSP), a genetic disorder affecting the long axons of nerve cells. By utilizing advanced techniques like whole genome sequencing, the lab aims to identify missing disease-causing genes in families affected by HSP, which conventional methods have struggled to detect. The lab also conducts studies to explore potential treatments and therapeutic targets for this rare disease.
hereditary spastic paraplegiageneticswhole genome sequencingbioinformaticsrare diseases
Research Aims
5AIM 01Identify additional genetic alleles in hereditary spastic paraplegia patients.
AIM 02Develop and test gene targeting therapies for HSP.
AIM 03Create a robust database to assist in genotype/phenotype data mining.
AIM 04Conduct functional experiments to confirm findings of new genes.
AIM 05Investigate genetic modifiers related to the SPG4 form of HSP.
Skills the Lab Values
whole genome sequencingexome sequencingbioinformatics analysisclinical data collectionphenotype-genotype correlation
Output against the department
Publications417top 16% of dept.41st of 259
this lab
most publishedleast published
Citations22ktop 26% of dept.67th of 259
this lab
most citedleast cited
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