Professor Michael Hildebrand

Professor Michael Hildebrand is a molecular geneticist in the Department of Medicine, University of Melbourne, with a well-established track record in applying genetic and functional approaches to elucidate novel pathways involved in human disease. He has published 143 papers (2004-23) with H-index 37 and >4,450 cites in Scopus (Professor 2023, age 42y; top 0.41% of 104,122 published authors in epilepsy on expertscape.com). In the last 5 years, he has authored 69 articles (26 in 2022; ~30% as first or last author), most in leading genetics or neurology journals, such as JAMA Neurology, Neuron, AJHG, Mol Psych, Neurol, and Epilepsia

Prof. Hildebrand heads the Translational Neurogenetics Laboratory in the Epilepsy Research Centre at the Melbourne Brain Centre, Austin Hospital which he established in 2012 as his own independent research group. The focus of his laboratory is to understand the basic neurobiology of human epilepsies, speech and language disorders, and vascular malformations, and translate this knowledge into improved diagnosis and treatment of patients supervising 16 staff (4 Postdoc; 8RA; 6TA) and 27 students (10 PhD). He has received >AUD$28M competitive funding. Current NHMRC grants: Ideas (2022-24 CIA $909K, CRE (2022-7 CID $2.5M) (2021-5 CIF $2.5M), Synergy (2022-6 AI $5M). Current MRFF grants: GHFM (2021-5 CIA $2.99M), (GHFM 2022-6 CIC $2.99M), (RCRDUN CIC, $1.69M).

The impact of his research has been significant advancements in our understanding of the aetiology and genetic architecture of epilepsy, speech and language disorders and vascular malformations. Conceptual advances include elucidation of the hidden genetics of epilepsy, particularly mosaic variants in focal epilepsies and vascular lesions (JAMA Neurol 2023, Neurology 2022, Hum Mutat 2022, HMG 2022, HMG 2021, Neurol Genet 2018, AJHG 2016), the first high-depth gene panel for focal epilepsy (Neurology 2016), and the innovative CSF liquid biopsy (Brain Commun 2021, Ann Neurol 2022) and first SEEG mosaic gradient (Neurology 2022) to detect brain mosaicism. Genetic contributions to speech and language disorders were poorly understood until Prof. Hildebrand led discovery of 33 new genes via genome-wide sequencing (Mol Psych 2022, Neurol 2020, Mol Psych 2019). These discoveries have had clinical impact with new genetic diagnoses informing prognosis, genetic counselling and targeted therapies including a new MRFF RCRDUN clinical trial of mTOR/Ras inhibitors for vascular lesions. This includes many diagnostic findings for patients with severe speech disorders, work that has led to mouse models being tested with novel therapies prior to human studies.