We are delighted to invite you to our exclusive and free webinar series on Complex Diseases, to be held during December 2020 and January 2021. Please see webinar dates and speaker information below.
Assoc. Prof. Michael Hildebrand
Thursday 28th January, 2:00pm AEDT
Our fourth speaker is Associate Professor Michael Hildebrand with his talk “Somatic Mutation: The Hidden Genetics of Epilepsy”
Abstract
Epilepsy is a common disorder with a ~3-4% lifetime risk. In about 20-30% of cases there is a clear acquired cause (e.g., head trauma or stroke), but in the remaining group, genetic factors often play a role. The most common group, focal epilepsies (FEs), account for ~ 60% of all epilepsies. Some FEs, such as those caused by brain malformations, are amenable to resective surgery, allowing privileged access to brain tissue. Genetic analysis of epileptogenic brain malformations has revealed both inherited and de novo variants in genes of the mTOR and other pathways in a growing number of cases. Within these brain abnormalities (lesions) the pathogenic variants are present in only a fraction of the cells (mosaicism), yet this is sufficient to disrupt neuronal development and lead to FE.
The first step towards rational precision medicine treatments for FE, targeting the underlying neurobiological basis of seizures, is precision diagnosis for individual patients. The overall contribution of mosaic variants, and their associated developmental pathways, to FE is not known, and is limited by the current need for brain tissue to identify most mosaic FE-related variants. Novel, minimally invasive approaches are required to detect mosaic variants in patients with FE using alternate sources of DNA, particularly for patients with ‘non-lesional’ FE (i.e. without neuroimaging evidence of a lesion) and no brain tissue available for analysis.
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Previous Webinars in the Series
Professor Stephen Harrap
Prof. Stephen Harrap
Tuesday 1 December, 11:00am AEDT
Our first speaker is Professor Stephen Harrap with his talk ‘Blink and You'll Miss It – a Common New Cardiovascular Phenotype with Genetic Credentials.’
Abstract
The normal cardiovascular (CV) responses to standing involve a transient fall in blood pressure (BP) within the first 20 seconds. In 3104 healthy young adults we examined the concomitant change in cardiac output (CO) on standing and discovered a bimodal distribution; with 34% of subjects experiencing a fall (COF) rather than the expected rise (COR) in CO. Other characteristics suggested the COF phenotype might be explained by problems with sympathetic nervous transmission. The COF phenotype was reproducible but not immutable, being mitigated by sympathetic activation and mimicked by vascular relaxation. We undertook a case-control (n=689) genome-wide association study (GWAS) that suggested association (P=2.05x10-6) with the exonic SNP that encoded a missense and functional variant in a gene involved in synaptic transmission. This common new phenotype provides potential new insights into physiological control and avenues to reduce risks of cardiovascular disease.
Biography
Stephen Harrap is Professor of Physiology at the University of Melbourne and a consultant physician at the Royal Melbourne Hospital. He has long-standing research interests in the genetics of common cardiovascular conditions with contributions in both man and experimental models. He has also played a major role in international clinical trials of stroke prevention (PROGRESS) and cardiovascular protection in diabetes (ADVANCE) respectively. He is a past President of the International Society of Hypertension and the High Blood Pressure Research Council of Australia.
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Associate Professor Simon Laws
Prof. Simon Laws
Thursday 3 December, 10:30am AWST
Our second speaker is Professor Simon Laws who will present a talk titled ‘Exploring the impact of gene combinations and gene-lifestyle interactions on Alzheimer’s Disease progression.’
Biography
Professor Simon Laws completed his PhD at the University of Western Australia in 2003. He spent his early postdoctoral career in Germany at the Technical University of Munich before returning to Australia in 2009. He is currently the Associate Dean of Medical and Exercise Science within Edith Cowan University’s School of Medical and Health Sciences. Prof Laws also leads the Collaborative Genomics and Translation Group, part of ECU’s forthcoming Centre for Precision Health for which he is the designated director of.
His research primarily focuses on understanding genomic (including genetic variation, epigenetic change and transcriptomic) influences on Alzheimer’s Disease risk and progression and their impact on Alzheimer’s disease related phenotypes, such as rates of change in memory performance and development of pathological features. This includes the validation of existing and development of novel polygenic risk scores, with a particular emphasis on the preclinical stages of disease.
Prof. Laws has published over 135 peer-reviewed journal articles and attracted research funding from both industry and nationally competitive funding bodies, such as the National Health and Medical Research Council (NHMRC). He recently received NHMRC funding to develop risk and resilience profiles for Alzheimer’s disease that incorporate genomic data with modifiable lifestyle factors and to explore the interaction of these and their impact on risk and progression of the disease.
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Cristina Fortuno
Tuesday 8 December, 1:30pm AEST
Our third speaker is Cristina Fortuno who will present a talk titled ‘Genetic testing for health and wellness: a commercial experience using GSA.’
Biography
Cristina Fortuno (MSc, PhD) holds a Master of Science in Biotechnology from the Polytechnic University of Valencia, Spain.
After gaining experience working in a reproductive genetics laboratory as a research assistant, she got a scholarship to pursue a PhD in Human Genetics at the University of Queensland, Australia.
Cristina co-authored 3 peer-reviewed journal articles during her undergraduate studies, and published 7 additional articles as a first author during her PhD. She is currently working as the product development lead at Fitgenes, an Australian-based genetic testing company focused on health and wellness.
Cristina is strongly motivated by the use of genomics in health care, as a tool to improve diagnosis, deliver personalised interventions, or find out more about an individual’s predisposition to certain health traits.
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