PhD project: 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.

Supervisor: Lenka Šlachtová, PhD, head of the department

Institute of Experimental Medicine of the Czech Academy of Sciences

The Institute of Experimental Medicine of the Czech Academy of Sciences (abbreviated as "IEM CAS") is a recognised centre for basic biomedical research in the Czech Republic. At present, the institute consists of 10 separate scientific departments and one research centre, focusing on research in biochemistry, cell and developmental biology, pathology, molecular embryology, genetic toxicology and nanotoxicology, neurobiology, neurophysiology, neuropathology, oncology, tissue replacement, and nanomedicine.

Department of neurogenetics

Head of the Department: Lenka Šlachtová, PhD

The department focuses on the genetic and molecular basis of amyotrophic lateral sclerosis (ALS), a rare, progressive neurodegenerative disorder characterized by motor neuron degeneration and paralysis. We use genetics, epidemiology, and clinical data to study disease the mechanisms, genotype–phenotype relationships, cognitive impairment (including C9orf72-associated ALS and ECAS), and connections with other neurodegenerative diseases. By integrating population-based studies, biobanking, and multi-omics approaches, we are shaping translational ALS/MND research in Czechia and enhancing the quality of life for people living 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

1. Brown R et al, 2017, DOI: 10.1056/NEJMra1603471
2. Al Chalabi et al, 2024: https://doi.org/10.1016/bs.irn.2024.04.007
3. Rheenen W et al, 2025: https://doi.org/10.1038/s41588-021-00973-1
4. van Rheenen, W., et al, Nat Genet 53, 1636–1648 (2021)