26. 03. 2026
ALS – from epidemiology to characterisation of genetic variants
Thursday 9. 4. 2026 | 14:00 hod.
Turquoise Lecture Hall of the IEM CAS (building Lb, 2nd floor)
Lecturer: Lenka Šlachtová, PhD | Department of Neurogenetics
Annotation: Amyotrophic lateral sclerosis (ALS) is a rare, devastating neurodegenerative disease caused by progressive loss of motor neurons, leading to muscle weakness, loss of movement and paralysis. The average survival is 3-5 years after diagnosis, with no effective cure for most patients. ALS is the most common form of motor neuron disease, with a multifactorial aetiology, including genetics, environmental exposures, etc. Regardless of the trigger, at the cellular level, ALS is involved in pathways such as protein misfolding, oxidative stress, mitochondrial dysfunction, and neuroinflammation.
Due to a significant data gap in Czechia and surrounding countries, we aimed to characterise patients with ALS to better understand its epidemiology and genetics and inform targeted treatment. In this seminar, we will present the first comprehensive real-world overview of motor neuron diseases in Czechia, based on nationwide data of 4583 patients from the past decade, describing incidence, survival, and current treatment patterns.
Since ALS is a multifactorial disease, we will dive deep into genetic mechanisms as one of the causes of ALS, presenting the SOD1 data from our cohort from Central and Eastern European countries, with 16 % of the EU population. In summary, we will illustrate how combining population data, environmental research, and genetics can deepen our understanding of ALS and help move toward more personalised care for patients in the region, including gene-targeted therapies.