Genome Studies in Hereditary Spastic Paraplegia- Beyond the Exome
Description: Project narrative Hereditary spastic paraplegias (HSP) are inherited disorder of long central axons in the corticospinal tracts. More than half of all affected families currently remain without a definite diagnosis because the underlying genetic factors that cause their disease have not been identified yet. Our study aims to use whole genome sequencing in exome -negative patients to identify these unknown HSP genes. We also plan a large SPG4 modifier study. This will ultimately allow to devise strategies to treat these diseases.
Funding type: research
Funder scheme: R01
Start date: 2011-02-01
End date: 2027-02-28
Investigator: REBECCA E SCHULE
Institution: UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
Funded outputs count: 131
Funder award ID: R01NS072248
OpenAlex ID: G9000864680