Fabiola Ceroni

Thanks to all our fantastic collaborators across the world and the families who took part in our study!

🎉We are very happy to see our new study on GJA8 published on @ejhg_journal! 🔎A great collaboration led by our postdoc @ssmerepa highlighting new GJA8 cases with microphthalmia, sclerocornea and congenital cataract! nature.com/articles/s4143…

Thanks to all our fantastic collaborators across the world and the families who took part in our study!

Ready to welcome the guests of the #BrookesBazaar25 and have fun with DNA 🧬 & Braille 👆🏻and Legos 😍

💜🌍 Today is Rare Disease Day! 🌍💜 Together, we stand with the 300 million people worldwide living with rare diseases. In uniting on this day we can raise awareness, advocate for change, and promote a more equitable future! ⚖️ Learn more: rarediseaseday.org

The #BrookesBazaar25 is back and we are very excited to be part of it! If you have kids between 5 and 16 yo and want to have a fun day packed with hands-on activities, join us this Saturday at Oxford Brookes University! P.S. book your free ticket in advance on Eventbrite!

Today marks the 216th birthday of Louis Braille! On #WorldBrailleDay we celebrate the inventor of #Braille, a tactile code that allows people with visual impairment to read and write independently. 📖

And we even managed to squeeze in a visit to the Science Museum! 😍 Did you know that they even have pipettes that children can try? 👩🏻‍🔬

Last Saturday we had the opportunity to take part in the meeting organised by the @FightBlindness in London. It was very exciting to hear about the amazing work that this Foundation is supporting and the incredible advances in therapies for eye disorders!

✨Finally, a HUGE thank you goes to all the families that have engaged in our research and @MACSthecharity for their continuous support over the years. It has been an inspirational journey, and we feel so lucky and privileged to have connected with such amazing people!

📝By demonstrating that DNA changes of non-coding regions involved in gene regulation can lead to developmental eye disorders such as microphthalmia and coloboma, our study will hopefully encourage further research of eye regulatory elements. Time to look beyond the genes! 🚀

It's been brewing for a while and we are now super excited to share our our study of a deletion disrupting non-coding elements important for MAB21L2 expression during eye development nature.com/articles/s4146… A little 🧵