Research Seminar: Dr Daniel Greene and Rebecca Tooze

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 seminar speakers will be:

Dr Daniel Greene presenting on his work "Genetic association analysis of 77,539 genomes reveals rare disease etiologies" the preprint of this publication can be found here. Daniel read mathematics at the University of Cambridge and worked in the software industry for three years before returning to Cambridge to pursue an MPhil in Computational Biology. He completed a PhD in Biostatistics on the topic of statistical methods for rare diseases under the supervision of Professor Ernest Turro, during which time he published two papers on rare disease statistical methodology and one describing a framework for working with ontological data in R. He continued working at the University of Cambridge as a Postdoctoral Fellow for another two years, making contributions to the main paper describing the NIHR BioResource--Rare Diseases genome-sequencing study, a pilot study for the 100KGP. Subsequently he took a job at the Mount Sinai School of Medicine to continue his research, where he works as an Assistant Professor.

Rebecca Tooze presenting on her research evaluating the gene panels used for diagnosis of craniosynostosis. Rebecca is a fourth year PhD student at the University of Oxford working under the supervision of Professor Andrew Wilkie and Associate Professor Stephen Twigg in the Clinical Genetics group. Her project aims to delineate novel genetic causes of craniosynostosis through mining whole exome and genome sequencing data from the UK 100,000 Genomes Project and their in-house database of patients without a genetic cause to their craniosynostosis. Any candidate disease gene has been functionally validated using a range of techniques, including immunofluorescence, protein and RNA analyses, and CRISPR gene editing.

About the research seminars

The seminars will be held on the last Tuesday of each month at 2 to 3pm. 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.