Research into disease mechanisms common for neurodegenerative and neurodevelopmental disorders

Prof. MUDr. Přemysl Jiruška, Ph.D. is Professor of Medical Physiology and Pathophysiology and Head of the Department of Physiology at the 2nd Faculty of Medicine, Charles University. He is also a project leader of the Epileptology Research Centre Prague and a researcher at the Institute of Physiology of the Czech Academy of Sciences.

His research has been focused on the mechanisms of epilepsy and epileptic seizures, especially in relation to cortical malformations. After his studies at the 2nd Faculty of Medicine, he worked for seven years in Professor Jeffers’ team at the University of Birmingham, where he gained fundamental experience in experimental epileptology.

We want to find the underlying mechanism of the disease

and thus outline new possibilities for individual treatment.

Main objectives

Mise

Zkoumat neurovývojová onemocnění a hledat jejich společné mechanismy s neurodegenerativními chorobami.

Vize

Pochopit procesy, které propojují genetické mutace, buněčnou signalizaci a neurodegeneraci, a otevřít cestu k moderní, personalizované léčbě včetně genové terapie.

Cíle

Cílem je odhalit mechanismy, které spojují neurovývojová a neurodegenerativní onemocnění, zlepšit jejich časnou diagnostiku a rozvíjet nové personalizované léčebné postupy.

What you should know

on neurodevelopmental diseases

104 000

people in the Czech Republic suffer from epilepsy

neurodevelopmental diseases

appear in childhood and extend into adulthood

4-12%

children in the Czech Republic have ADHD

11 000

people suffering from autism spectrum disorder

6-8%

Europeans suffer from a rare neurodevelopmental disease

AI

Artificial intelligence is being tested as a tool for better diagnosis and treatment

Pillar 3 research groups

Neurodevelopmental disorders shrouded in mystery

There are number of diseases whose origins remain unclear. These include today frequently mentioned autism spectrum disorders or ADHD. These disorders can have a congenital basis, such as gene mutations passed on from parents, or arise spontaneously during fetal development. However, they can also be caused by acquired factors such as complicated or premature birth, difficulties during pregnancy or in the first weeks of the child’s life.

The aim of the Pillar 3 research team is to identify the risk factors that lead to these mutations and disorders and find ways to influence them. Using modern approaches, such as gene modulation and modification and early repair of the gene mutation could help. The disease shall not develop at all or could be milder and the quality of life would therefore be higher.

The number of children with neurodevelopmental and neurobehavioural disorders is increasing worldwide. The cost of their treatment and support is even higher than for Alzheimer’s patients. This is not only a health challenge, but also serious socio-economical problem.

EpiStop z.s.

EpiStop helps people with epilepsy to live a full life. It creates a space for patients, doctors, carers and professionals to work together and aims to improve the position of people with epilepsy in society.

It focuses on improving the quality of health care, educating patients and the public, and providing social and legal support.
The aim is to remove barriers, strengthen understanding and improve the living conditions of people with epilepsy and their loved ones.

EpiReC

Through collaborative research, discovery and innovation, we want to open the way to new and effective ways of preventing, diagnosing and treating epilepsy and thus fundamentally improve the quality of life of patients and their loved ones. Modern epilepsy research, improvement of diagnostic methods, development of new drugs, their successful and rapid transfer to clinical practice requires close and effective cooperation not only between experimental and clinical epileptologists, but also molecular biologists, mathematicians, bioengineers, biochemists, pharmacologists and a number of other specialties that are united by a common research theme – epilepsy.

Czech Association for Rare Diseases z. s.

Patient organisation dedicated to the complex issue of rare diseases. It currently has 52 patient organisations and more than 200 individual members with very rare diseases. It represents very rare (not only) neurological diseases. The long-term goal is that no patient with a rare disease is left behind. CAVO proposes and advocates for systemic changes to benefit all patients with rare diseases, representing patient organizations and individual members to ensure optimal care and treatment for their diagnoses.

National Institute for Autism, z.ú.

The National Institute for Autism is a non-profit organization providing social, health, psychological and leisure services to people with autism. It offers counselling to individuals, families and institutions, operates a residential facility, provides early intervention, psychodiagnostics and skills training. It is the founder of the SPC, a kindergarten and the PASPARTA publishing house. It is a member of Autism-Europe, which aims to improve the quality of life of people with PAS across Europe. It is dedicated to children and adults with Autism Spectrum Disorder (ASD) and their families.

INTEGRATION CENTRE OF SASOV z.ú.

INTEGRATION CENTRE SASOV z.ú. (ICS) is one of the longest running social service providers focused exclusively on supporting people with autism spectrum disorder (ASD) and their carers. ICS has long provided professional support at its branches in Jihlava, České Budějovice, Jindřichův Hradec and Prague 10.

The ICS provides registered services such as social rehabilitation, professional social counselling and day care. It also provides additional services such as psycho-rehabilitation stays, leisure activities and accredited education.

LÍP A SPOLU, z.s.

The patient organization LÍP A SPOLU, z.s. focuses on all-round support of people with autism and their families. It operates since 2019 mainly in the Liberec and Ústí nad Labem regions. It is dedicated to individual counselling for families of children with autism in the field of education, social and legal issues. It organizes parent support group meetings, trips and weekend stays for whole families, leisure club, suburban and residential camps for children with neurodevelopmental disabilities. It focuses on educating parents and professionals and educating the public on autism-related topics. Provides homesharing, a community-based alternative respite service for caring families. It has long worked with many organizations and institutions to improve the lives of people with neurodevelopmental differences and their caregivers.

Migraine-help, z. s.

Migraine-help is a patient organisation that has been supporting people with migraine and other headaches since 2018. We provide expert counselling, psychological and social support, connect patients in a safe environment of self-help groups and organise awareness raising events for the public and professionals. It has a long-standing commitment to fighting stigma, advocating for improved access to modern treatments, and offering practical tools for managing daily life with migraine.

PARENT PROJECT, z.s.

PARENT PROJECT, z.s. is a parent patient organization that unites and advocates for the interests of patients with rare neuromuscular diseases, their caregivers and families, primarily patients with Duchenne and Becker muscular dystrophy (DMD/BMD). It provides multidisciplinary support for its members and caregivers through its own expert team, including telephone and electronic counseling. It organises psycho-rehabilitation stays which include education for patients and their families. Organizes stays for patients without parents with assistance and summer camps for children. It also provides educational and informational activities for patients, professionals and the general public. It is significantly involved in patient advocacy, proposing and advocating systemic changes for the benefit of patients with neuromuscular diseases and other groups of chronically ill patients.

The E/Czech Epilepsy Association, z. s.

E supports people with epilepsy and their loved ones across the Czech Republic. It helps them to cope with challenging life situations while striving to improve their status and role in society. It focuses on professional psychosocial counselling, peer support and online groups, as well as advocacy work. It places a strong emphasis on education – organising talks, webinars and creating information materials for patients and the public. Through awareness campaigns, it contributes to reducing prejudice about epilepsy and raising awareness of the disease. Through its social enterprise, the flower workshop Arrangery, it provides employment opportunities for people with epilepsy.

Behind the glass o.s.

Organization Za sklem o. s. has been supporting people on the autism spectrum and their families since 2011. It provides four registered social services in its branches in Prague, Brno, Olomouc, Zlín and Kyjov – professional counselling, social activation services, social rehabilitation and day centres.

In addition to direct support, it engages in education, advocacy and advocates for systemic changes in education, health and social care. It helps more than 2,000 clients a year across the country.