Viewing archives for Guest Lectures

Professor Caroline Wright – Revisiting genetic determinism: evidence from large population cohorts

Developments in whole genome sequencing technologies have catalysed incredible progress in the diagnosis of rare disease and the discovery of novel disease-associated genes. However, large-scale sequencing of population cohorts has revealed that many healthy individuals carry the same disease-causing variants as patients. The extent of this incomplete penetrance in individuals not ascertained on the basis of a family history or clinical diagnosis is neither well understood nor widely appreciated. In this talk, Professor Caroline Wright, Professor of Genomic Medicine at the Department of Clinical and Biomedical Sciences at the University of Exeter, outlines recent research into penetrance of different diseases across different populations, and discusses the broader implications of these findings for genomic screening. This is the 2024 Dr Stanley Ho Memorial Lecture, in collaboration with the Oxford Martin School, and it took place on 29 May 2024.

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Reproducibility in Science: A Fireside Chat

The theme of reproducibility in science is explored in a virtual fireside chat with Dr Stuart Ritchie, Lecturer at the Institute of Psychiatry, Psychology and Neuroscience at King’s College London and author of the best-selling book Science Fictions. He is joined by Dr Marcus Munafo, Professor of Biological Psychology at the University of Bristol and Dr Malika Ihle, Reproducible Research Oxford Coordinator. Dr Magdalena Skipper, Editor-in-Chief of Nature, chairs this fascinating evening of conversation.

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Can it happen again? Informing pregnancy decisions using personalised risk information

Can it happen again? Informing pregnancy decisions using personalised risk information

When a child is diagnosed with a serious genetic condition caused by a new genetic change (de novo mutation), parents often worry about the chances of this happening again in future pregnancies. Currently, the general recurrence risk given in clinic is a population average (usually ~1-2%). However, there is now a new strategy, called PREGCARE, that can refine this risk for each individual couple. This presentation by Professor Anne Goriely and Dr Alison Kay from the University of Oxford explores how it works, its potential benefits and what it means from a practitioner’s perspective. Dr Emilie Wigdor introduces the session.

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Professor Cecilia Lindgren – An introduction to the Big Data Institute

Hear from Professor Lindgren about how Oxford researchers at the BDI are developing, evaluating and deploying efficient methods for acquiring and analysing information for large clinical research studies to identify the associations between lifestyle exposures, genetic variants, infections and health outcomes around the globe. Cecilia Lindgren has a PhD in Molecular Genetics with a specialisation in endocrinology from the University of Lund, completed in sponsorship by the Witehead Institute at MIT, Cambridge, USA. She was a postdoctoral fellow at the University of Lund and at the Karolinska Institutet, and a Scholar in Residence at the Broad Institute in Cambridge, USA, before joining the University of Oxford. She is a Wellcome Trust Investigator and co-founder/co-chair of the International Common Disease Alliance. She has been a Senior Research Fellow at St Anne’s since 2016, when she joined the steering group of the Centre for Personalised Medicine (at St Anne’s).

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Holly Eggington – Plasticity in Colorectal Cancer

Holly Eggington is a DPhil student in Cancer Science, studying interaction between cellular compartments in colorectal cancer at the Wellcome Centre for Human Genetics. She is also a medical student, passionate about bridging the boundary between laboratory and clinical research, as well as being President of the Oxford University Personalised Medicine (OUPM) Society.

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Dr Chris Gyngell – Rapid challenges: ethics and genomic neonatal intensive care. Dr Danya Vears – To share or not to share: public perspectives on genomic data sharing

Christopher Gyngell is a Team Leader in Biomedical Ethics at the Murdoch Children’s Research Institute; Senior Lecturer in the Department of Paediatrics at the University of Melbourne; and a Senior Research Fellow at the Melbourne Law School. His research interests lie primarily in the ethical implications of biotechnologies and the philosophy of health and disease Danya Vears is a social scientist with a genetic counselling background who explores ethical issues relating to genetic testing. She is a Senior Research Fellow and Team Leader at the Biomedical Ethics Research Group, Murdoch Children’s Research Institute, and holds honorary positions at University of Melbourne, and as a Guest Professor at the Centre for Biomedical Ethics and Law, KU Leuven. Danya’s current research focuses on the practical, social and ethical issues relating to the use of next generation sequencing technologies in both clinical and research settings. Danya is a member of the Education, Ethics and Social Issues Committee of the Human Genetic Society of Australasia and also the Global Alliance for Genomics and Health.

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Professor Tim Elliott – Personalised Immunotherapy

Tim Elliott left the University of Oxford (Balliol) with a first in Biochemistry in 1983 and completed his PhD in cancer immunotherapy at the University of Southampton in 1986. He did his postdoctoral training at the Massachusetts Institute of Technology with Herman Eisen at the Center for Cancer Research. In 1990 he returned to the University of Oxford to join the Institute for Molecular Medicine as a Wellcome Trust Research Fellow, joining a key group of immunologists studying antigen presentation at the molecular level. In 1993 he was appointed to a lectureship and later a Professorship at Balliol College, University of Oxford, as a Wellcome Trust Senior Fellow in Basic Biomedical Science. In 2000, he moved to the University of Southampton as Professor of Experimental Oncology and five years later became Associate Dean for the Faculty of Medicine. In 2015 he stepped down from this role to take up interim Pro Vice Chancellor (Research) for the University of Southampton. He was the Founding Director of the new Southampton Centre for Cancer Immunology which opened in 2018, and Deputy Director of the interdisciplinary Southampton Institute for Life Sciences for which he is now an external consultant. He is a world leader in the field of antigen presentation and T cell biology and has incorporated discoveries in the areas of antigen processing, T cell regulation and immunodominance into the development of new cancer immunotherapies and is the recipient of a Royal Society/Wolfson Research Merit Award. He is a Fellow of the Royal Society for Biology and Fellow of the Academy of Medical Sciences; founding Editor-in-Chief of the journal Immunotherapy Advances published by the British Society for Immunology; and chairs the Cancer Research UK Cancer Immunology expert review committee. Professor Elliott was appointed to the Kidani Chair of Immuno-Oncology at the University of Oxford in 2020.

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Dr Patrick Short – Accelerating precision medicine research with digital and at-home testing

Talk from Dr Patrick Short, CEO of Sano Genetics, ‘Accelerating precision medicine research with digital and at-home testing’. Recorded on Thursday 15th December.

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Dr Shiri Shkedi-Rafid – Challenges of genomic testing in gamete-donated pregnancies

We were delighted to host Dr Shiri Shkedi-Rafid on Tuesday 24th January 2023 at the Wellcome Centre for Human Genetics for her talk, Challenges of genomic testing in gamete-donated pregnancies. Dr Shkedi-Rafid is a senior genetic counsellor at Hadassah Medical Center, with over 15 years of clinical experience both in Israel and the UK.

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Professor Jeffrey Macklis – Beyond personalised & toward circuit-customised medicine

Can we do better than small blue pills with overly broad effects in the brain? Just as people and populations are diverse – motivating ideas of personalised medicine, nerve cells – or neurons – of the brain are immensely diverse in their types and “individual” circuits that become diseased or damaged in humans. This lecture considers newly accessible molecular routes to more specific future therapies. The long-term goals of the research to be discussed in this Stanley Ho Memorial Lecture are to understand, at a “subcellular” molecular level, controls over the initial growth – the “development” – and diversity of cerebral cortex function-specific circuitry, and diversity of mature function. The work aims to identify causes, mechanisms, and thus potential “circuit-customised” therapeutic approaches to developmental, neuropsychiatric and degenerative disease, and to elucidate and potentially overcome blocks to brain and spinal cord regeneration in disorders like spinal cord injury. The specificity, modification, and function of quite diverse brain circuitry underlies how the brain-nervous system senses, integrates, moves the body, thinks, functions with precision, malfunctions with specificity in disease, degenerates with circuit specificity, might be regenerated, and/or might be better modeled in the laboratory. However, many relevant aspects of this neuronal circuit diversity and distinctness have been inaccessible in multiple core aspects until quite recently. Understanding what actually implements and maintains circuit specificity is a key issue regarding childhood developmental nervous system abnormalities and disease, proper function vs. dysfunction in neuropsychiatric disorders, selective neuron type vulnerability of degeneration (e.g. in motor neuron disease (MND-ALS), Huntington’s, Parkinson’s diseases), regeneration (or typical lack thereof) for spinal cord injury, and investigations of disease using human pluripotent stem cell (hiPS)-derived neurons. Professor Jeffrey D. Macklis’ talk will consider possibilities of taking the idea of “personalised medicine”- tailored to an individual based on individual information – in a complementary direction– tailoring therapies to specific diseased or damaged brain circuitry. This is the Dr Stanley Ho Memorial Lecture organised by the Oxford Martin School, Oxford Martin Programme on 3D Printing for Brain Repair and the Centre for Personalised Medicine.

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