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A/Prof

Michael Hildebrand

Principal Research Fellow
Medicine - Austin Health
Genes
Linkage Analysis
Sequencing
science & technology
life sciences & biomedicine
humans
male
female
neurosciences & neurology
Michael Hildebrand's Profile Picture
A/Prof

Michael Hildebrand

 
Division
Medicine, Dentistry And Health Sciences
 
Primary Interest
Epilepsy
Michael Hildebrand's Profile Picture
A/Prof

Michael Hildebrand

 
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Michael's  Short Profile
 

I am a neurogeneticist with international research experience and collaborations who completed my PhD in late 2006 (University of Melbourne). I head the Translational Neurogenetics Laboratory in the Epilepsy Research Centre at the Melbourne Brain Centre, Austin Hospital, and am currently supported by with the supported of by a NHMRC Centre of Research Excellence in Speech and Language Neurobiology (APP1116976), and NHMRC Project Grants on detection of somatic mutations in sporadic epilepsy (APP1129054) and improving diagnosis, prognosis and clinical care in childhood speech disorders (APP1127144).

The focus of my research is to understand the basic neurobiology of human epilepsy and speech disorders, and translate this knowledge into improved treatment of patients. Further information about my research is available on my laboratory homepage: http://medicine.unimelb.edu.au/research-groups/medicine-and-radiology-research/austin-hospital/translational-neurogenetics-laboratory and the Epilepsy Research Centre homepage: http://medicine.unimelb.edu.au/research-groups/medicine-and-radiology-research/austin-hospital/epilepsy-research-centre. My achievements include:

• H-index 37, > 4,400 citations
• 96 research papers including 34 first, 22 corresponding and 10 last author contributions
• Discovered: 10 speech disorder genes (Neurology - accepted Dec 2019, Mol Psych 2019), 5 epilepsy genes (e.g. AJHG 2016, Nat Genet 2013/2015), 5 deafness genes (PNAS 2008/2011, AJHG 2009/2011, Nat Comm 2011), and 1 male infertility gene (AJHG 2009, EJHG 2010) • Created deafness therapies (JARO 2005, Mol Ther 2008, Hear Res 2011)
• Developed the first clinical gene panel for deafness (PNAS 2010)
• Designed the first clinical phenotype filter for deafness (Genet Med 2008, AJMG 2009)
• Productive 5 year international postdoc (University of Iowa, United States, 2006-2011)
• Contributed to grants totalling >

0 million (~
.74M as CIA) - Epilepsy Foundation Grant, CIA (2020-2024)
• NHMRC CRE Grant APP1116976, CIC (2017-2021)
• NHMRC Project Grant APP1129054, CIB (2017-2020)
• NHMRC Project Grant APP1127144 CIB (2017-2019)
• NHMRC Project Grant APP1079058, CIA (2015-2017)
• NHMRC Project Grant APP1067081, CIB (2014-2016)
• NHMRC Project Grant APP1050161, CIC (2013-2015)
• ARC Discovery Project 120100285, CIC (2012-2014)
• March of Dimes Grant, CI (2015-2017)
• NHMRC RD Wright CDF Fellowship APP1063799, CIA (2014-2018)
• NHMRC CJ Martin Fellowship APP546493, CIA (2009-2013)
• MNI Grant, CIA, (2014)
• MNI Fellowship, CIA (2014)
• APA (2002-2005)
• Dean's Honours List (2002)
• Lecturer in Neurosciences PhD Program University of Melbourne (2012-2020)
• PhD/Honours/UROP Student (x15) co-supervisor/examiner (2006-2020)
• Postdoc (x3) co-mentor (2012-2020)
• Lab head (> 7 year) managing 7 staff (4xRA/3xTA; 2012-2020)

Projects

Displaying the 10 most recent projects by Michael Hildebrand.

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A clinical liquid biopsy to diagnose epilepsy

2020 - 2024
Active
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Discovery of genes with common variation that cause stuttering

2018 - 2025
Active
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NEUROBIOLOGY OF CHILDHOOD SPEECH DISORDERS: IMPROVING DETECTION, DIAGNOSIS AND CLINICAL CARE

One in 20 children have a speech disorder at school entry, with lifelong deficits in psychosocial, academic and employment outcomes. Little ..

2017 - 2019
Completed
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DETECTION OF SOMATIC MUTATIONS IN SPORADIC EPILEPSIES

Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertiliz..

2017 - 2020
Active
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DETECTION OF SOMATIC MUTATIONS IN SPORADIC EPILEPSIES

Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertiliz..

2017 - 2020
Active
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CENTRE FOR RESEARCH EXCELLENCE IN SPEECH AND LANGUAGE NEUROBIOLOGY (CRE-SLANG)

Half a million Australian children have a speech/language disorder, tripling their changes of poor academic outcomes, limited employment opt..

2016 - 2021
Active
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EXPLORING SOMATIC MUTATION IN FOCAL EPILEPSIES

Epilepsy is a common disease in the Australian population affecting 3 percent of individuals. It incurs lifelong medical, social and educati..

2015 - 2017
Completed
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GENETICS OF EPILEPSIES AND SPEECH DISORDERS

Epilepsy and speech disorders are common diseases in the Australian population that have major genetic contributions. To improve clinical ca..

2014 - 2018
Completed
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GENETIC EPILEPSIES IN TWINS

Epilepsy is a common disease in the Australian population affecting 3% of individuals that has a significant genetic contribution. To improv..

2014 - 2016
Completed
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The Tasmania Infantile Epileptic Encephalopathy Project

2013 - 2019
Completed

16

Projects

Project Types

14

Research Grant

1

Internal Research Grant

1

Research Contracts

Additional Information

2020-2024 Epilepsy Foundation, Australian Epilepsy Research Fund Grant Scheme, A Clinical Liquid Biopsy to Diagnose Epilepsy ($224,640 AUD) CIA: A/Prof. Michael S. Hildebrand, CIB Prof. Samuel Berkovic, CIC Prof. Melanie Bahlo, CID Prof. Ingrid Scheffer, CIE A/Prof. Richard Leventer

2019 Sir Edward Dunlop Medical Research Foundation Grant, Somatic Mutation as a Cause of Severe Focal Epilepsy ($20,000 AUD) CIA: Dr. Michael S Hildebrand

2018 University of Melbourne, MDHS Research Fellowship, (

10,000 AUD) CIA: Dr. Michael S.Hildebrand

2017 University of Melbourne, MDHS Large Equipment Grant, ($59,997 AUD) CIA: Dr. Michael S.Hildebrand

2017-2020 NHMRC Project Grant APP1129054, Detection of Somatic Mutations in Sporadic Epilepsies, University of Melbourne (
,256,165 AUD) CIA: Prof. Samuel F Berkovic, CIB: Dr. Michael S Hildebrand, CIC: Dr. Slave Petrovski, CID: Dr. Snezana Maljevic

2017-2019 NHMRC Project Grant APP1127144, Neurobiology of childhood speech disorders: improving diagnosis, prognosis & clinical care, Murdoch Childrens Research Institute ($994,575 AUD) CIA: A/Prof. Angela Morgan, CIB: Dr. Michael S Hildebrand, CIC: Prof. Simon Fisher, CID: Dr. Frederique Liegeois

2017-2021 NHMRC CRE in Speech and Language Neurobiology (CRE- SLANG) APP1116976, Murdoch Childrens Research Institute ($2,491,340 AUD) CIA: A/Prof. Angela Morgan, CIB: Prof. Ingrid Scheffer, CIC: Michael S. Hildebrand, CID: Prof. Melanie Bahlo, CIE Prof. Alan Connelly, CIF: Prof. David Amor, CIG: Prof. Sheena Reilly, CIH: Prof. Simon Fisher, CII: Dr. Frederique Liegeois

2016 Sir Edward Dunlop Medical Research Foundation Grant, Zinc and seizures, University of Melbourne ($20,000 AUD) CIA: Dr. Michael S Hildebrand

2015-2017 March of Dimes Grant, Murdoch Childrens Research Institute ($201,542 AUD) CI: Dr. Angela Morgan, CI: Prof. Alan Connelly, CI: Dr. Frederique Liegeois, CI: A/Prof. Melanie Bahlo, CI: Dr. Michael S Hildebrand, CI: Prof. Ingrid Scheffer

2015 University of Melbourne, MDHS Establishment Grant, ($35,000 AUD) CIA: Dr. Michael S.Hildebrand

2014 Melbourne Neuroscience Institute Research Fellowship, University of Melbourne ($33,333 AUD) CIA: Dr. Michael S Hildebrand

2014 Melbourne Neuroscience Institute Interdisciplinary Seed Funding Scheme, University of Melbourne($40,000 AUD) CIA: Dr. Michael S Hildebrand, CIB: Dr. Angela Morgan, CIC: Prof. Alan Connelly, CID: Prof. Ingrid Scheffer

2013 Austin Medical Research Foundation (AMRF) Grant-In-Aid of Medical Research, University of Melbourne (
0,000 AUD) CIA: Dr. Michael S. Hildebrand

2012-2014 Australian Research Council (ARC), Discovery Project DP120100285, University of Melbourne ($510,000 AUD) CI: Prof. Ingrid. E Scheffer, CI: Dr. Angela T. Morgan, CI: Dr. Michael S. Hildebrand

2012-2016 National Institutes of Health (NIH) R01 Grant PAR-11-003, Optimizing High-Throughput, Low-Cost Clinical Diagnostic Genetic Testing for Deafness, University of Iowa, USA ($2.5 million USD) PI: Dr. Richard J.H. Smith

2010-2011 The National Organization for Hearing Research (NOHR) Stria Vascularis Research Grant, Department of Otolaryngology, University of Iowa, Iowa,
USA ($50,000 USD) PI: Prof. Richard J.H. Smith

2009-2011 Royal National Institute for Deaf People (RNID) International Grant, RNA interference protects against hereditary hearing loss, Department of Otolaryngology, University of Iowa, Iowa, USA (₤97,500 GBP;
65,816 USD) PI: Prof. Richard J.H. Smith

2006-2008 Postdoctoral Fellowship, National Institutes of Health (NIH), R01 Grant DC003544, Autosomal Dominant Non-Syndromic Hearing Loss. Department of Otolaryngology, University of Iowa, Iowa, USA ($2.1 million USD) PI: Prof. Richard J.H. Smith

Scholarly Works

Displaying the 10 most recent scholarly works by Michael Hildebrand.

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Adrian Palencia-Campos, Phillip C Aoto, Erik MF Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Celine Huber, Dominique Bonneau, Michael S Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F Bennett, Amy L Schneider, et al.

Journal article  |  2020  |  The American Journal of Human Genetics

PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme tha..

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A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Joanne M Hildebrand, Maria Kauppi, Ian J Majewski, Zikou Liu, Allison J Cox, Sanae Miyake, Emma J Petrie, Michael A Silk, Zhixiu Li, Maria C Tanzer, Gabriela Brumatti, Samuel N Young, Cathrine Hall, Sarah E Garnish, Jason Corbin, Michael D Stutz, Ladina Di Rago, Pradnya Gangatirkar, Emma C Josefsson, Kristin Rigbye, et al.

Journal article  |  2020  |  Nature Communications

MLKL is the essential effector of necroptosis, a form of programmed lytic cell death. We have isolated a mouse strain with a singl..

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Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O Braden, Samantha Turner, Kristin A Rigbye, Amber Boys, Sarah Barton, Richard Webster, Michael Fahey, Kerryn Saunders, Bronwyn Parry-Fielder, Georgia Paxton, Michael Hayman, David Coman, Himanshu Goel, Anne Baxter, Alan Ma, et al.

Journal article  |  2020  |  Neurology

OBJECTIVE: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despit..

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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Meng-Han Tsai, Alison M Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E Porter, Laura A Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P Almanza Fuerte, Michele G Mehaffey, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim, et al.

Journal article  |  2020  |  Neuron

Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities..

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Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

Journal article  |  2020  |  European Journal of Human Genetics

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Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Lynette G Sadleir, Guillem de Valles-Ibanez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson, John Nguyen, Samuel F Berkovic, Saul Mullen, Melanie Bahlo, Michael S Hildebrand, Heather C Mefford, Ingrid E Scheffer

Journal article  |  2020  |  Epilepsia

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence..

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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Claire Bar, Giulia Barcia, Melanie Jennesson, Gwenael Le Guyader, Amy Schneider, Cyril Mignot, Gaetan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gerard, Herve Isnard, Alice Poisson, Sophie Dupont, Patrick Berquin, Pierre Meyer, et al.

Journal article  |  2020  |  Human Mutation

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Var..

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SCN1A Variants in vaccine-related febrile seizures: A prospective study

John A Damiano, Lucy Deng, Wenhui Li, Rosemary Burgess, Amy L Schneider, Nigel W Crawford, Jim Buttery, Michael Gold, Peter Richmond, Kristine K Macartney, Michael S Hildebrand, Ingrid E Scheffer, Nicholas Wood, Samuel F Berkovic

Journal article  |  2019  |  Annals of Neurology

OBJECTIVE: Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile..

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The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer

Journal article  |  2019  |  Annals of Neurology

OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encepha..

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Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Jennifer L Johnson, Loredana Stoica, Yuwei Liu, Ping Jun Zhu, Abhisek Bhattacharya, Shelly A Buffington, Redwan Huq, N Tony Eissa, Ola Larsson, Bo T Porse, Deepti Domingo, Urwah Nawaz, Renee Carroll, Lachlan Jolly, Tom S Scerri, Hyung-Goo Kim, Amanda Brignell, Matthew J Coleman, Ruth Braden, Usha Kini, et al.

Journal article  |  2019  |  Neuron

In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism..

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Scholarly Works

Keyword Analysis

Clinical Health (organs, Diseases and Abnormal Conditions)
Neurosciences
Clinical Sciences
Genetics
Clinical (organs, Diseases and Abnormal Conditions)
Paediatrics and Reproductive Medicine
Specific Population Health (excl. Indigenous Health)
Health and Support Services
Cognitive Sciences
Expanding Knowledge

Honours, Awards and Fellowships

2014

NHMRCF - NHMRC Fellowship

2009

CJMARTIN - C.J. Martin Research Fellowship (National Health & Medical Research Council, Australia)

2

Awards

Credentials

Positions

Positions

Principal Research Fellow

Medicine - Austin Health

Trainee

American Epilepsy Society

Trainee

American Society of Human Genetics

Ordinary Membership

Australian Society for Medical Research

Education

Education

Doctor of Philosophy

University of Melbourne

Bachelor of Science (Hons)

University of Melbourne

Bachelor of Biomedical Science

University of Melbourne

Links

Links