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BSGM Lunch and Learn - June 2024: De novo variants in the RNU4-2 snRNA are a frequent cause of neurodevelopmental syndromes
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If you would like us to consider publishing details of an event related to genetics and genomics, please submit it here. We regret we are not usually able to publish events unless they are associated with genetics and genomics.
A BSGM 'Lunch and Learn' online session, bringing together members from across the Society to learn and discuss topics of interest to all.
Please note that this month's Lunch and Learn will start at 12:00 and finish at 13:00.
Dr Nicky Whiffin is an Associate Professor, Sir Henry Dale Fellow, and co-lead of the research theme in Genomics at the Big Data Institute and Centre for Human Genetics at the University of Oxford. She is also a research fellow at St Anne's College, University of Oxford and a visiting scholar at the Broad Institute of MIT and Harvard. Nicky's research uses computational approaches to interpret the role of genetic variants in rare diseases, particularly those that impact gene regulation. She is an expert in the annotation and interpretation of variants in non-coding regions of the genome, for which she has led the creation of clinical guidelines, and has developed numerous open-source tools.
Dr Nicky Whiffin will be presenting her research paper, De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
"We identify the non-coding RNA RNU4-2 as a novel syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of major spliceosome. We identify 115 individuals with NDD with variants in an 18 bp region of RNU4-2 and fully characterise the associated phenotype in a subset of 49 individuals. We demonstrate that RNU4-2 is highly expressed in the developing human brain and that the identified RNU4-2 variants result in a systematic disruption to splicing. We estimate that variants in this 18 bp region explain 0.4% of individuals with NDD making variants in RNU4-2 one of the most frequent causes of NDD."
All sessions will be recorded and available via the BSGM website for members unable to attend live.
If you are unable to attend and have any questions you would like to submit in advance please send them to Demetra Georgiou
We aim for this initiative to be genuinely useful to members and serve as a point of collegial conversation across professions and geographies; topics will be selected that are of broad interest and feedback is welcome as we develop the initiative.
Past events
For recordings of our previous talks in this series please see the members area of the BSGM website: Lunch and learn
Cost and booking
This event is free to attend and open to all BSGM members (ACGS/AGNC/CGS/CGG/FGG) as well as non-members. Advanced registration to watch live is essential through the event page and the Zoom meeting link will be circulated ahead of the event.
Future events
Please save the date and book via the links below for 2024 Lunch and Learn webinars:
This event is being organised by the Royal Society of Biology for the BSGM. For any booking or website queries, please contact Beth Glynn-Ramsden at events@rsb.org.uk or on 020 3930 9927.