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

Charlotte Wilmshurst #BSGM2025 Inconsistency in naming of genetic conditions causes challenges for those affected, including barriers to support. @uniquecharity.bsky.social highlighted that many families prefer the use of eponymous names. guidelines for naming practices in progress.

We're at @bsgmofficial.bsky.social today!

Connecting with genetics researchers, clinicians, and thought leaders aligning towards a common goal of #GenomicMainstreaming in the UK has been inspiring!

Stop by our table and speak with Dr. Orion Buske before 6pm today! #BSGM2025

@bsgmofficial.bsky.social enjoyed an excellent morning of talks at #BSGM2025. Fantastic progress in medical genetics during my career. Feel as excited about the ideas and new findings as I was in the 1989s! So many more genetic components of diseases now understood. Therapy techniques now emerging

‘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

#BSGM2025 What an impressive start, Serena Nik Zainal opens the morning. The dark genome session highlights the importance of small non coding RNAs, TAADs, last exon frameshift variants and X inactivation when diagnosing and understanding rare diseases.

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