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Research Seminar: Dr Wai Yan Yau & Dr Seema Mital

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The Research Seminar series started strongly in 2021 with amazing talks and over 300 people in attendance. Hosting the seminars online enabled us to reach a wider audience within the community and capture some great questions. You can watch the videos of these presentations here.

Wayne Yau gave a technical but clear talk titled Neuronal Disease and Movement Disorders. Wayne’s team detected a specific mutation in the NOTCH2NLC which plays a part in signalling in the brain. This mutation changed the sequence of the gene and affected the function of the protein the gene codes for. Wayne’s research demonstrates an association between mutations in this gene and movement disorders, as well as an increased prevalence of the mutation in Caucasians. Wayne’s research has recently been published and is available here.

Seema Mital then presented on Whole Genome Sequencing in Childhood Cardiomyopathy. Through sequencing the whole genome, as in the 100,000 Genomes Project, we are able to detect genetic variation that other methods might miss. Seema’s team were able to identify such mutations in the region of the genome that don’t code for protein and find associations between these mutations in 11 genes and participants with cardiomyopathy. Seema’s research is currently in preprint but is available online here.

About the research seminars

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.

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. Sign up now to attend for free at: bit.ly/GELseminars2021. 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.

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