Researchers at UCL Institute of Neurology have begun to investigate genetic influences on neurological disorders such as ataxia, epilepsy and rare and severe headache disorders.
Epilepsy, migraine and associated paroxysmal neurological disorders, known as synaptopathies – relating to the dysfunction of the synapse – are characterised by intermittent symptoms that interrupt long periods of normal function.
Genetics plays a big role in these diseases, yet single genes only rarely cause them. Limited understanding of how mutations in different genes interact, and why the symptoms are only intermittent, is limiting progress in diagnosis and treatment.
Researchers including Professor Houlden, principal investigator Professor Dimitri Kullmann and Nobel prize winner Professor James Rothman will look for changes in the genes and examine how these changes affect the transmission of signals across synapses.
They will study patients who suffer migraines, cluster headache, epilepsy, episodic ataxia, paroxysmal sleep disorders and episodic dystonia by analysing their genome from a blood sample to identify disease genes and investigate disease mechanisms. In many patients they will also take a 3mm skin biopsy to develop stem cells and derive muscle and neuronal models of these diseases.
The researchers anticipate that identifying where mechanisms can be interrupted or stabilised as a therapeutic treatment will lead to the development of disease models.
The researchers will also attempt to understand the interactions
among multiple genetic variants that can occur together in affected
individuals.
The researchers were awarded a Wellcome Trust Strategic Award. The strategic award provides flexible forms of support to research groups with outstanding track records in their field.
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