With childhood dementias impacting almost the same number of children in the UK as cystic fibrosis, Professor Paul Gissen (UCL) and his team have captured a real research gap which they are aiming to address. 👏🏼
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The first half of our afternoon at the BSGM 2025 Conference was filled with multiple Abstract Short Talks, demonstrating the immense talent and innovation of the Genetic Medicine Community nationally and internationally!
Thank you to all our inspiring speakers 👏🏼
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‘How Genomics is Changing Prenatal Diagnosis’
Professor Lyn Chitty’s talk captured the ongoing developments to hopefully make NIPD available for more conditions, and the focus on rapid prenatal exome sequencing to get answers for parents quickly in an ongoing pregnancy. 👏🏼
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Thank you to Jerry Chan (KK Women’s and Children’s Hospital & Duke NHS Medical School Singapore). It was fascinating to learn about the breakthroughs in Fetal Molecular Therapy, and to see the progression from animal models, to real positive outcomes for families.
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Kicking off the next group of talks this morning at our BSGM conference is Professor Stavros Loukogeorgakis, Paediatric Surgeon.
Thank you for another inspiring talk on ‘Virus-Like Particle Mediated in Utero Gene Therapy for Krabbe Disease’.
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A great talk by Nicky Whiffin (Associate Professor, Big Data Institute, University of Oxford) showing a ‘Dark Genome’ breakthrough - variants in the ReNU region of snRNAs are the cause of a new diagnosis: ReNU syndrome. 👏🏼 👏🏼
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Another capturing talk at our conference by Clinical Geneticist Malte Spielman (University of Lübeck & Kiel University).
His work into the ‘Dark Genome’ hopes to understand why the diagnostic yield from WGS sequencing remains at around 35-40%.
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🧬 We are very grateful to have the brilliant Edith Heard (from EMBL and Director of the Francis Crick Institute) talk on her research into X Chromosome inactivation. 🧬
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