Translational research

Translational research

SEIN research mission is to transform the lives of people with epilepsy and to prevent the burden it imposes. With the realisation that epilepsy is part of a spectrum of transient brain there will be a major paradigm shift in our understanding of epilepsy. We intend to increase the understanding of paroxysmal disorders that may result in the effective translation of new therapies for people with paroxysmal disorders of the brain. If this translation is realised and delivered than cost-effective remedies might be made available. This would be the culmination of SEIN’s vision of a world in which epilepsy is not a burden.

Prevention of epilepsy

An important aim is the prevention of epilepsy. The commonest preventable risk factors for epilepsy are brain infections, traumatic brain injury and strokes. If prevention is not possible then pre-symptomatic diagnosis and treatment in those people who are at risk of developing epilepsy after exposure to a risk factor needs consideration. To develop tools for stratification of individuals who are at high risk one should use individual genomic information in combination with treatment with well-tolerated and safe drugs to prevent the onset of seizures.

Understanding of epileptogenesis

A major foundation in epilepsy management is the understanding of epileptogenesis and how this happens in a variety of contexts. It is known that the same risk may lead to epilepsy in some individuals but not in others. This is likely to be mediated by an individual genomic architecture. Identification of the mechanisms underlying the development of epilepsy at an individual level using potentially appropriate mechanistic and disease-modifying treatments which can then be given at the right time to the right person. Computational pathology is an approach to diagnosis that incorporates and links multiple sources of data (radiology, clinical, neuropathology and molecular / genomic data sets) using mathematical models for machine learning.

Triggers of an individual seizure

Understanding the process or processes that trigger an individual seizure and other paroxysmal symptoms in a given person and how these could be predicted in advance and than inhibited is a major therapeutic approach for those with an established paroxysmal disorder. This could lead to drugs or devices that may predict and abolish a symptom before it emerges.

Development of effective therapeutic approaches

Information and evidence from the individual genetic blueprint, better understanding of epileptogenic processes and the ability to predict brain paroxysms such as seizures will be an important part of the puzzle for the development of effective therapeutic approaches. This may lead to the design of effective focal therapies for paroxysms if it is not well treated with simple medication, surgery, gene transfer, lesion and stimulation.

Sudden unexpected death in epilepsy (SUDEP)

A major burden of epilepsy is premature mortality. This is driven by somatic comorbidities and by SUDEP. Better understanding of risk factors and modifiers such as individual genomic architecture will be crucial. This knowledge will further enhance the identification of individuals at risk and lead to the development of monitoring devices for individuals. Those with life threatening comorbidities might also be identified as this may lead to therapeutic measures preventing premature death.

Scientists involved:

prof. dr. E. Aronica