Research Seminar: Genotype Phenotype Association

This month the research seminar will feature talks from members of the Genotype Phenotype Association Community. This month's talks are listed below:

De novo and inherited dominant variants in U4 and U6 snRNAs as a cause of retinitis pigmentosa

• Identification of pathogenic variants in core spliceosomal snRNAs
• Large-scale screening of unsolved retinitis pigmentosa cohorts
• Distinct molecular mechanisms underlying retinal versus neurodevelopmental phenotypes

-Mathieu Quinodoz, Senior Scientist, Institute of Molecular and Clinical Ophthalmology Basel (IOB)

RNA-Seq of 5412 individuals with rare disease in the 100,000 Genomes Project

• Analysis of RNA-Seq data from 5412 individuals with rare disorders in the 100,000 Genomes Project
• Assessment of how different gene panels are captured in the dataset
• Examples of candidate diagnoses identified in the rare disorder cohort

-Jenny Lord, Lecturer in Systems Biology, University of Sheffield

About the speakers:

Mathieu Quinodoz is a computational geneticist and senior scientist at the Institute of Molecular and Clinical Ophthalmology Basel (IOB). He did a PhD in Life Science in the university of Lausanne, Switzerland. His work focuses on developing bioinformatic methods and analytical pipelines to uncover pathogenic genetic variation missed by standard sequencing approaches, with a particular emphasis on inherited retinal diseases. His research combines methodological rigor with large-scale patient data to directly improve rare disease diagnosis and gene discovery.

Dr Jenny Lord is a Lecturer in Systems Biology at The University of Sheffield. Her research focuses on improving diagnostics of rare disease using big data and innovative analytical approaches, with a particular focus on disorders related to RNA splicing and the non-coding genome. She has extensive experience developing and applying bioinformatics pipelines to analyse large-scale DNA and RNA sequencing datasets. Jenny completed her PhD at The University of Nottingham and initial postdoctoral position at Washington University in St Louis in Alzheimer’s disease genetics, before moving into rare disease diagnostics in two further postdoc positions at The Wellcome Sanger Institute and the University of Southampton. In December 2023, she moved to Sheffield Institute for Translational Neuroscience (SITraN) at the University of Sheffield to start her own research group.

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 talks presented by Research Network members on the latest research being performed using data from the National Genomic Research Library.

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 Research Network 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 Genomics England twitter page. 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 Research Management 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.