22 Aug 2018

Spotlight on our NHMRC Fellowship winners: Dr Piero Perucca

Dr Piero Perucca,
Department of Neuroscience
By Anne Crawford

Dr Piero Perucca. Early Career Fellowship to: assess the extent to which genetic factors account for focal epilepsies of unknown cause.

Focal epilepsies, the most common types of epilepsy, have traditionally been regarded as disorders related to an 'acquired' brain insult such as a head injury, stroke or tumour. In reality, most cases of focal epilepsy have no identifiable cause.

“The perception resulted from the fact that people who have these brain insults go on to develop focal seizures but if you look at epidemiological studies about two-thirds of people with focal epilepsy have no known cause,” Dr Perucca said.

Dr Perucca’s project is building on work he conducted as part of his PhD, completed last year, into a subset of focal epilepsy called familial mesial temporal lobe epilepsy. This is a genetic syndrome in which seizures come from the brain’s temporal lobe, and have a mix of symptoms including intense déjà vu experiences.

People were often unaware that they had the syndrome, said Dr Perucca, as many people who don’t have epilepsy experience déjà vu (“I’ve seen/experienced this before”). Those with epilepsy however have longer, more intense experiences and other internal sensations such as a feeling of discomfort in their stomach, sense of fear and that things around them are moving very slowly. These seizures occur in clusters leaving the person feeling drained and fatigued.

Dr Perucca’s PhD study used interviews with first-degree relatives (parents, siblings or children) of patients newly diagnosed with non-lesional temporal lobe epilepsy, and found that one in five patients had the familial condition.

This study will apply both clinical and genetic testing approaches to assess whether people with focal epilepsies of unknown cause more broadly actually have a genetic basis to their condition.

“Finding a gene’s important. It not only gives an explanation to the epilepsy patient but acts as prognostic information,” he said. “You could also understand if the patient was taking the right treatment or needs to be on another treatment. The ultimate goal is applying precision medicine.

“My goal is to help my patients and the broader group of patients with epilepsy. All my research questions come from my clinical practice, how I can translate my clinical problems into solutions.”

Dr Perucca said he was humbled to receive the Fellowship. “I’m very grateful for the enormous support of my mentors in the Department of Neuroscience,” he said.

“The project will be conducted within a successful collaborative framework which has been at the forefront of advances in epilepsy genetics and treatment at the international level.”

Dr Perucca is a consultant neurologist and epileptologist and a Senior Research Fellow with the Central Clinical School’s Department of Neuroscience. He received his medical and specialist-in-neurology degrees from the University of Pavia, Italy, and undertook higher training in epilepsy at Columbia University, US, the Montreal Neurological Institute, Canada, and The Royal Melbourne Hospital where he carried out his PhD under the supervision of Professors Terry O’Brien and Patrick Kwan (both now at Monash) and Professor Sam Berkovic.

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