Eye2Gene

Thank you to Front Line Genomics for inviting Nikolas Pontikos to present Eye2Gene at the UK Festival of Genomics #fog2025. We are thrilled to contribute to this annual get-together of the entire genomics and biodata community, to discover, meet, learn and celebrate together the power of genomics at improving precision medicine! #AI4IRD

Did you know that there are 25-30 million Americans, and close to 300 million people worldwide, living with rare diseases?    MeiraGTx is proud to be a part of the community of people working towards finding cures to severe, rare diseases like Leber Congenital Amaurosis.    MeiraGTx's work on AIPL1-associated retinal dystrophy was recently published in The Lancet and featured in this piece in Newsweek.    #ShowYourStripes on Rare Disease Day 2025.    #RareDiseaseDay #RareDiseases https://lnkd.in/eDQqeHiT

Today is #rarediseaseday. Despite being individually rare, inherited retinal diseases #IRD are collectively a leading cause of blindness in younger individuals across the world. Since 2017 we at Eye2Gene (led by Nikolas Pontikos) have been working very hard with our partners to develop #AI to help more patients get diagnosed and to advance the field so that patients get the treatment they need. Moorfields Eye Charity and NIHR Moorfields Biomedical Research Centre are long time supporters and instrumental to this work. Thank you 🙏 #AI4IRD

Congratulations to the researchers who have received funding for childhood and adolescent eye health from Moorfields Eye Charity. Despite significant advancements in adult eye health research, funding for paediatric eye conditions remains underfunded. The combination of funding and a multidisciplinary approach at Moorfields and UCL, along with the swift translation of research, will drive the development of new therapies and improve patient outcomes. Read more: https://lnkd.in/efXwh7iJ   Moorfields Eye Hospital, London | UCL Institute of Ophthalmology Mariya Moosajee Nikolas Pontikos Michael Crossland Vijay Tailor #Ophthalmolgy #VisionResearch #ResearchFunding

Pr Hélène Dollfus, ERN-EYE coordinator, is today at the European Parliament in Strasbourg to speak at the Workshop on Patients’ Rights and Rare Diseases in the European Union. She presented in particular concrete cases in which the European Reference Networks are useful in the context of the Directive 2011/24/EU on framing patients’ rights and entitlements to healthcare in the EU.

The NHS Genomic AI Network is launching a Special Interest Group with The Alan Turing Institute We're bringing together experts, innovators, and leaders to explore the powerful intersection of AI and Genomic Medicine. We'll share the link to our first webinar soon, so make sure you're following us to keep up to date! Do you have any guest speakers you'd like to see? Let us know in the comments below or email: gstt.genomicainetwork@nhs.net

Our next I/O Lab Coffee Club session is 𝘁𝘄𝗼 weeks away, on Wednesday 12 March, where we will be speaking with Dr. Nikolas Pontikos (Associate Professor at the Institute of Ophthalmology) about the development of Eye2Gene. The conversation will explore the early collaboration with UCLB, key aspects in securing NIHR funding, the journey taking an idea from translation to pre-spinout, plus much more! Find out more and reserve your spot here: https://lnkd.in/eTEmD6qC UCL | UCL Technology Fund | UCL Innovation & Enterprise | UCL Institute of Ophthalmology | UCL Faculty of Brain Sciences | Moorfields Ophthalmic Reading Centre & Clinical AI Lab | Mark Fisher | Celine Baron, PhD

On the first article of our newsletter, we covered an exciting new paper published by Ferreira et al. It highlights the performance of their deep learning tool in the classification of retinitis pigmentosa. Read the full article below. Nikolas Pontikos William Woof Thales A. C. de Guimarães João Pedro Marques

You may have seen this story in the news today - a bit of sunshine on a gloomy day! Lots of NIHR support for this one, including the NIHR Moorfields Biomedical Research Centre and Clinical Research Facility. https://lnkd.in/eTgfWpNY

"Eleven children who were legally blind at birth all gained visual acuity after receiving MeiraGTx's investigational gene therapy, data that are prompting the biotech to seek accelerated approval in AIPL1-associated severe retinal dystrophy," writes Darren Incorvaia of Fierce Biotech. The piece recaps MeiraGTx's recent announcement of publication of results in #TheLancet from the first in-human interventional study to treat children with AIPL1-associated severe retinal dystrophy. Click through for the full article, which includes links to The Lancet Group publication and MeiraGTx's announcement. https://lnkd.in/eyBQRnRM