Laureate Professor Sam Berkovic AC

Citation for the Award of the Brownless Medal

Laureate Professor Sam Berkovic, AC, MD, FAA, FRACP, FRS is one of the world’s brightest academic minds. He is the quintessential clinician-researcher, whose research, inspired by his very own practice as a neurologist, has led transformational change in the “practice of medicine through the development and application of new knowledge”. Professor Berkovic is world-renowned for his work in epilepsy, transforming our understanding of the importance of genetics of the epilepsies, and major contributions to neuroimaging, phenotyping, and clinical practice. His international leadership has been stellar, bringing together all regions of the world.

Whilst Professor Berkovic is best known for his work in epilepsy genetics, his work in neuroimaging was also pioneering. He was the first to recognise that hippocampal sclerosis could be visualised on MRI (Ann Neurol 1991), a finding that has led to cure many patients with drug-resistant temporal lobe epilepsy worldwide. His work in single photon emission computed tomography showed that focal hyperperfusion could identify the brain area from which seizures arise (Ann Neurol 1989), guiding epilepsy surgery evaluation worldwide.

His novel research approaches have also impacted other clinical domains. He was the first to establish a ‘First Seizure Clinic’, dedicated to people presenting with their first seizure or new-onset epilepsy (Lancet 1997), now adopted worldwide. This results in earlier diagnosis and appropriate management, improving outcomes.

Professor Berkovic’s greatest contributions have been in understanding the genetic aetiologies of the epilepsies, moving thinking from epilepsy not being regarded as a genetic disease, to now where genetic factors are regarded as central to many, if not most, forms of epilepsy. Beginning in the 1980s, his clinical studies of twins and large families provided the basis for gene discovery. Together with Laureate Professor Ingrid Scheffer, he described many familial epilepsy syndromes (e.g. Lancet 1994; Brain 1995,1997; Ann Neurol 1995, 1996). This led to pioneering discoveries, such as the first gene for epilepsy, CHRNA4 (Nat Genet 1995, Scopus 1049 citations) and many genes since (Nat Genet x 8 papers). Today, his team has shown there are >1000 monogenic epilepsy genes, with the genetic aetiology identified in 50% of patients with severe epilepsies.

Professor Berkovic continued his scientific pursuits well beyond the relatively ‘low-hanging’ fruit of monogenic gene discovery. He went on to galvanise the world epilepsy community to lead two major endeavours. The first NIH-funded studies, EPI4K followed by Epi25, performed exome sequencing in large patient populations (>20,000) in both severe epilepsies (Nature 2013, 1261 citations) and common epilepsies (e.g. Nat Neurosci 2024). The second initiative he founded and which he continues to chair, the International League Against Epilepsy (ILAE)’s Consortium on Complex Epilepsies, has analysed 29,000 individuals with common epilepsies from all over the world, leading to the identification of many risk loci for epilepsy (e.g. Nat Genet 2023). His 40-year pioneering contribution to the field has unravelled the complex genetic architecture of the epilepsies, with major implications for precision diagnosis and the development of precision therapies.

Professor Berkovic’s scientific metrics are simply outstanding. His work has been cited 72,439 times with an h-index of 140 (Scopus). He has garnered >$86 million in grant support, largely from NHMRC and MRFF. He has received innumerable awards and accolades, e.g. the 1995 American Epilepsy Society Clinical Research Recognition Award, 1993 RACP Eric Susman prize, 2005 ILAE Ambassador award, 2021 Australasian Neuroscience Medallion, and 2025 RACP Neil Hamilton Fairley Medal. The paradigm-shifting nature of his science has been recognised by election as a Fellow to the Australian Academy of Science (AAS), Australian Academy of Health and Medical Science, and Royal Society of London. Together with Laureate Professor Ingrid Scheffer, he was the recipient of Australia’s most prestigious science prize, the Prime Minister’s Prize for Science in 2014. He received an AM in 2005 and AC in 2014. He is an outstanding teacher and mentor, having trained >80 clinician-research fellows from many countries, with many now full professors.

Professor Berkovic is a masterful and compassionate clinician and continues to care for and be a strong advocate for people with epilepsy and related disorders. Succeeding Dr Peter Bladin, for 25 years he was Director of the Comprehensive Epilepsy Program at Austin Health (recently named the ‘Bladin-Berkovic Comprehensive Epilepsy Program’ in recognition of his enormous contribution). He holds/has held major leadership positions in professional organisations, e.g. ILAE and AAS. He was President of the Epilepsy Society of Australia.

In summary, Professor Berkovic has revolutionized the understanding and approaches to diagnosis and management of the epilepsies. The translational outcomes of his work include major impacts on precision diagnosis, accurate genetic counselling, optimising treatment and outcomes and precision therapies, including gene therapies. He currently leads a large research group which integrates epilepsy genetics, high level imaging and neurobiology with parallel studies in humans and animals. He continues to lead global endeavours to solve the complex genetic architecture of epilepsies and develop precision therapies.