# GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exome

> **NIH NIH R01** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2020 · $604,363

## Abstract

Advancing Genomics Of Recessive Ataxias
Project summary
Hereditary spastic paraplegias have a heterogeneous genetic etiology. While ~50% of all patients of dominant
HSP are explained by three major genes (spastin, atlastin, REEP1), the remaining genetic causes are rare and
explain no more then another 15% of patients. For recessive HSP only about 40-50% of patients receive a
genetic diagnosis. Recent progress is tremendous and will likely identify the genetic basis for another 20% of
patients in the coming five years. Especially interesting is that less than 50% of cases are clarified in select
exome sequencing approaches, implaying that whole genome studies will be necessary. In addition,
HSPs often show clinical overlap with related neurological diseases, such as ataxias, leukodystrophies,
metabolic disorders, and mitochondrial disorders. Thus, there is a two-fold need: 1) to standardize the clinical
classification in a collaborative fashion and 2) to expand the knowledge of underlying causative genes and
molecular pathways. This will be beneficial beyond HSP and contribute to our understanding of a number of
related neurological diseases. For this study, we will create a collaborative structure between investigators in the
USA, Germany, France, Belgium, Brazil, Austarlia, and indirectly Middle East and Northern Africa. We will be
able to systematically study THE largest clinical sample of HSP in the world led by world-renowned clinical and
genetic experts. Importantly, existing genomic data will be contributed in kind by our collaborators and jointly
used in the analysis. Our recent success in identifying dozens of genes for familial neurological disorders,
including HSP validates the suggested approach. Data will be shared with dbGAP. We expect to identify and
publish 2 – 4 novel genes per year and create a lasting resource of clinical and genomic data.

## Key facts

- **NIH application ID:** 10001620
- **Project number:** 5R01NS072248-10
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** Rebecca E Schule
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $604,363
- **Award type:** 5
- **Project period:** 2011-02-01 → 2022-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10001620

## Citation

> US National Institutes of Health, RePORTER application 10001620, GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exome (5R01NS072248-10). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10001620. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*