Neurogenetics
Research Department
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.
People
PhD students
Department Description
What We Do
Understanding ALS Through Genetics and Interdisciplinary Research
Amyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disorder characterized by motor neuron degeneration and subsequent paralysis. It most commonly affects individuals between the ages of 40 and 60, and median survival following diagnosis is approximately 2–3 years. For most patients with ALS, there is no cure. Rerecent advances in gene therapy have led to the FDA and EMA approval of a treatment targeting mutations in the SOD1 gene, which account for approximately 1–3% of ALS cases.
ALS is a highly heterogeneous disease. Up to 90% of cases are considered sporadic, and more than 40 genes have been implicated to date, with additional candidates emerging. The disease arises from complex interactions across genetic, molecular, and cellular levels, underscoring the need for integrated, interdisciplinary research strategies.
Research Areas
- Genetics and molecular mechanisms of ALS – the genes involved, genetic architecture, SOD1, rare variants, population screening
- Epidemiology of ALS/MND – demographics, risk factors, environmental factors, healthcare consumption
- Genotype-phenotype overlap of ALS with other neurodegenerative diseases
- Cognitive defects in ALS – c9orf72 gene, ECAS (Edinburgh Cognitive and Behavioural ALS Screen)
- Biobanking, data collection, bioinformatics
Our Approach
We use multi-omics, clinical data, and epidemiological questionnaires to integrate genomics, bioinformatics, neurology, and epidemiology. This interdisciplinary approach allows us to uncover key drivers of ALS, explore disease mechanisms, and identify potential therapeutic targets. Through our population-based study, we have established a foundational framework for translational ALS research in Czechia.