Research Seminar: Professor Andrew Wilkie, Professor Stefan Marciniak and Fiona Copeland

The Genomics England Research Seminar series is a season of events held to demonstrate the best research from Genomics England and our partners. They started in October 2018, and are monthly, free-to-attend evenings of talks presented by GECIP members on the latest research being performed on the 100,000 Genomes Project data from our academic community (GECIP), commercial partners (Discovery Forum), COVID analysis and Genomics England research on other cohorts.

This month's speakers are:

Professor Andrew Wilkie

Andrew Wilkie FMedSci FRS is Honorary Consultant in Clinical Genetics at the Oxford University Hospitals and Nuffield Professor of Pathology at the University of Oxford. Working closely with the plastic surgeons, his clinical research aims to identify the molecular genetic basis of craniofacial malformations, particularly craniosynostosis (premature fusion of the cranial sutures); over >25 years his group identified many new disease genes. Work on Apert syndrome led to fundamental discoveries concerning the mechanisms of mutation associated with paternal age effects. Andrew’s team was the first to demonstrate the diagnostic value of exome/genome sequencing in craniosynostosis. Extending this work to 100,000 Genomes Project data, they uncovered several reasons why clinical molecular diagnoses have been systematically missed by the filtering pipelines. Current work explores the use of optical mapping and nanopore sequencing to find occult copy number and structural variants.

Professor Stefan Marciniak

Stefan is Professor of Respiratory Science at the University of Cambridge where his lab studies the role of abnormal protein folding in lung disease. He is an honorary consultant respiratory physician at Addenbrooke’s and Royal Papworth Hospitals with a clinical focus on pleural medicine. He is subdomain lead for Familial Pneumothorax in the Respiratory GeCIP and director of the NHS Familial Pneumothorax Rare Disease Collaborative Network (RDCN). RDCN: https://www.cuh.nhs.uk/our-ser... Lab: http://www.med.cam.ac.uk/marci...

Fiona Copeland

Fiona is the Patient Representative for the Respiratory GECIP. She is a patient advocate for Rare Diseases and was awarded a British Empire Medal for chairing the PCD Support Group and raising awareness of PCD in the 2021 New Year’s Honours. She promotes, chairs, and directs a large variety of national committees, groups and advisory boards working to promote knowledge and development of genetic disorders, blindness, cancer support, and health research. She has co-written numerous academic papers on PCD.

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About the research seminars

The seminars will be held on the last Tuesday of each month at 2-3:30pm. These will be online sessions open to everyone and free to attend, we hope to have representation from across the GECIP, Discovery Forum and 100,000 Genomes Project participants as well as anyone else who would be interested in joining.

For updates on the seminars including announcements and speakers please follow the GECIP team Twitter. You can watch all previous Research Seminars on the Genomics England YouTube channel.

If you would like to present your research from the Genomics England Research Environment at one of these events please get in touch with the GECIP team at [email protected] and if you intend to publish on this research please include this so that we can publicise your paper on our Publications page.