🧬 Lunch & Learn announcement for 24th June 12:30-13:30! Dr Suha Bachir, Genetics Director at the Cardiovascular Connective Tissue clinic at Stanford University School of Medicine, will be presenting on Connective Tissue Disorders and Myhre Syndrome: Advances in Genomics and Patient Care

Our May Lunch & Learn Session led by Rosie Lindup, Senior Policy and Public Affairs Manager at the UK BioIndustry Association (BIA), is now available on our BSGM website if you missed it or want to re-watch. A BSGM members exclusive!

📢 Meet the team! Introducing Bethany Hughes, part of the BSGM social media team. Bethany is a registered Genetic Counsellor at the Birmingham Genetics service. She has a keen interest in science communication and is currently involved in the development of national leaflets for Genetics teams.

Don't forget BSGM members can watch previous Lunch and Learn sessions on our website, including last months session with Kerry Leeson-Beevers, Chief Executive of Alström Syndrome UK on 'Living with Alström Syndrome and Developing and Sustaining a Rare Disease service'.

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. 👏🏼 #BSGM2025

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 👏🏼 #BSGM2025

‘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. 👏🏼 #BSGM2025

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. #BSGM2025

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’. #BSGM2025

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. 👏🏼 👏🏼 #BSGM2025

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%. #BSGM2025

🧬 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. 🧬 #BSGM2025

🧬 And the BSGM 2025 conference has begun!! A warm welcome from our BSGM Chair Demetra Georgiou Look out for talk highlights on our social media platforms. Post your best bits and tag #BSGM2025 📖 Talk summaries will be available to our members in the upcoming months. #BSGM2025