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OUT TODAY - THE ROAD TO GENOME PODCAST The first episode is alive & kicking on all podcast platforms, or can be listened to on our website. Catch the first episode with patient Jack who chats about his genetic heart condition Listen at: ney-genomics.org.uk/about-genomics…

Delighted to open SARONG trial in Leeds. Helping to answer an important question for our cancer patients.

Great thread…

Leeds UGI robotic programme going from strength to strength. Really enjoyed helping two fab colleagues today, and two patients benefiting from complex hiatal surgery performed robotically.

Wow!A full house to hear James Poulter,UKRI Future Leaders Fellow & University Academic Fellow in Molecular Neuroscience,talk about recent work to identify novel disease genes associated with rare neurodevelopmental disorders. Publications can be found: shorturl.at/abjU5

Brilliant and important work Saghira. Well done.

Check out the preprint at biorxiv.org/content/10.110… 3/3

As the demand for rapid genomic testing grows, can the workforce keep up? McCorkell et al. develop a wide-scale #genomics education program to create #GenomicChampions bit.ly/4eqOhUZ #medEd Prof Zornitza Stark Australian Genomics Prof Clara Gaff

Excited to report our study in NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 nejm.org/doi/full/10.10…

Ahead of the second reading of the Bill proposed by Richard Holden MP to prohibit cousin marriages, we have released a parliamentary briefing 👉 bsgm.org.uk/news/bsgm-parl… Genetic Alliance UK Gene People Unique MPS Society UK, here for those with rare diseases Alström Syndrome UK Breaking Down Barriers @Commonswomequ Health and Social Care Committee

Today is Rare Disease Day! Our team are embracing the #shareyourcolours campaign by Rare Disease Day to help raise awareness for the 300 million people worldwide living with a rare disease, their families and carers #RareDiseaseDay #RareDiseaseDay2025 #ShowYourStripes 🧬

🧬 The team from Manchester BRC, MFT NHS and UoM Biology, Medicine and Health collaborated with scientists worldwide to analyse the genetic data of thousands of individuals. They studied parts of our genes which have previously been dismissed as ‘dark matter’ or ‘junk DNA’. 🔗 manchesterbrc.nihr.ac.uk/news-and-event…

New review on Smith-Lemli-Opitz syndrome highlights emerging therapies: ✅ Cholic acid to boost cholesterol absorption ✅ Antioxidants to reduce toxic oxysterols ✅ Statins under study to lower 7-DHC. bit.ly/4kGVrYF