Přehled
Project description
Understanding the genetic causes of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting motor neurons and leading to paralysis and premature death. Although more than 40 ALS-associated genes have been identified, a large proportion of cases—particularly sporadic ALS—remain genetically unexplained. Increasing evidence shows that genetic defects, including rare variants, oligogenic inheritance, and non-coding or structural genomic alterations, play a central role even in sporadic disease.
This PhD project aims to uncover novel genetic contributors to ALS using whole genome sequencing (WGS). You will work with a unique biobank of 250 well-characterized ALS patients established in the Slachtova Lab and integrate genomic data with detailed clinical information. Your work will help reveal disease mechanisms and contribute to future precision medicine approaches for patients with ALS.
Candidate profile
- Do you want to do research changing the world for patients with ALS?
- Are you a curious, self-motivated person who enjoys learning new things?
- Do you like working with large datasets, solving complex problems, and collaborating with others?
What will you do
- Analyse whole genome sequencing data from ALS patients
- Identify known and novel genetic variants linked to ALS and explore genotype–phenotype relationships using clinical data
- Work with large-scale genomic datasets using bioinformatics tools, collaborate with neurologists, geneticists, and other experts
Suggested reading
- Brown R et al, 2017, DOI: 10.1056/NEJMra1603471
- Al Chalabi et al, 2024 https://doi.org/10.1016/bs.irn.2024.04.007 (open in a new window)
- Rheenen W et al, 2025 https://doi.org/10.1038/s41588-021-00973-1 (open in a new window)
- van Rheenen, W., et al, . Nat Genet 53, 1636–1648 (2021)
Application form
Supervisor
Head of the Department
Lenka Šlachtová, PhD
lenka.slachtova@iem.cas.cz 
