As the year draws to a close, we are grateful to our Scholars, partners and Advisory Council members for their continued commitment to advancing treatments and cures for rare diseases.

Last week, the Oxford-Harrington Rare Disease Centre convened its Advisory Council in Oxford to reflect on a year of progress and to set priorities for 2026. Read more: tinyurl.com/5c2kwcny

A special seminar on the human impact of ultra-rare diseases—and the growing momentum behind Cure DHDDS —takes place next Tuesday, 2 Dec (2:30–3:30pm) at the Botnar Research Centre, Oxford. 🔹 Melanie Dixon (CureDHDDS) 🔹 Prof. Emyr Lloyd-Evans (Cardiff University) 🔗 talks.ox.ac.uk/talks/id/b90...

Today, we are pleased to announce the 10 outstanding scientists selected for the 2025 Rare Disease Scholar Award, who will drive scientific breakthroughs to transform treatment options for the 500M people worldwide affected by rare diseases. Read more: tinyurl.com/49baysns

Earlier in November, the OHC team joined the programme and conversations at the CamRare Summit 2025, exploring how scientific advances, policy shifts and new models of collaboration could shape the next decade of rare disease research and care. Photos: Jeremy Peters #RAREsummit25

Earlier this week, Prof Matthew Wood, OHC Director, spoke at the FT Live Global Pharma & Biotech Summit. He said: "It was valuable to highlight the essential role of academic drug development in addressing rare diseases and the importance of regulatory innovation."

Yesterday, we heard from Professor Carlo Rinaldi, Neurological Disorders Theme Lead at the Oxford-Harrington Rare Disease Centre, who spoke at the Cambridge Rare Disease Network (CamRARE) Rare Summit 2025 about the next decade of rare disease innovation.

MHRA reforms mark a vital step toward faster, safer innovation for the 500M people worldwide living with rare diseases. A more adaptive, evidence-based framework will help researchers and clinicians deliver life-changing therapies faster. Read more: tinyurl.com/msurx5ju

Every breakthrough starts with a bold idea—and the support to make it real. Join the Oxford-Harrington Rare Disease Centre webinar to hear how scientists & philanthropists are working together to advance cures for the world’s rarest diseases. 🔗 www.harringtondiscovery.org/events

Professor Matthew Wood, Director of the Oxford-Harrington Centre, joins the FT Live Global Pharma and Biotech Summit to explore the future of healthcare innovation. 📅 11–12 Nov | London & online 🔗 bit.ly/4pPcJpd #FTPharma #Biotech

Join Oxford-Harrington Scholars Angela Russell and Michael Pacold as they share advances in Duchenne muscular dystrophy and HDPL Encephalopathy in our upcoming webinars on November 5th and 13th. Register now: www.harringtondiscovery.org/events #OxfordHarrington #RareDisease

On 14 Oct at the Francis Crick Institute, the #RareSummit2025 will unite leaders in science, healthcare & policy to accelerate diagnosis & treatment for rare diseases. 🔗 Register: tinyurl.com/4xe26ppm #AccelerateRare

On #InternationalAtaxiaAwarenessDay, we spotlight progress in ARSACS research. In Oxford, Professor Esther Becker is using patient-derived cerebellar organoids to uncover why brain cells are vulnerable and to open new paths toward treatment. 🔗 tinyurl.com/ye6k9cx4 #RareDisease #AtaxiaAwareness

Today, OHC Co-Director Dr Matthew Anderson gave a talk hosted by Prof Carlo Rinaldi, at the Institute of Developmental and Regenerative Medicine - University of Oxford, on how autism genetics provides a window into the neuronal circuits that regulate human behaviour.

September is #ChildhoodCancerAwarenessMonth, a reminder of the urgent need for new treatments.

Oxford researchers are invited to a seminar with Dr Matthew Anderson on "Neural Circuit Targets of Behavioral Medicines: Insights Through Autism Spectrum Disorder Genetics." 📅 19 Sept | 11:45–12:45 📍 IDRM, Old Road Campus 🔗 Register for free: talks.ox.ac.uk/talks/id/afb...

On #DuchenneAwarenessDay, we celebrate the power of patient advocacy. When Alex Johnson OBE and Emily Reuben OBE founded Duchenne UK, their shared mission was clear: to end Duchenne muscular dystrophy. In just over a decade, their work has transformed care across the UK. 🔗 tinyurl.com/ynz7anm5

As Sarepta's gene therapy clinical trials for limb-girdle muscular dystrophy (LGMD) have been placed on hold, many patient families have been left without alternative treatment options. Read more in this article by Jason Mast: shorturl.at/zBQmI

On 14 Nov 2025, Dravet Syndrome UK will host the #DSUKConference2025 in London St Pancras & online 🩺 The UK’s leading Dravet-focused scientific meeting will share research and clinical updates for healthcare professionals. Agenda & booking: bit.ly/DSUKProfConf25

Professor Carlo Rinaldi, one of ten 2025 Oxford-Harrington Rare Disease Scholar Award recipients, is developing a novel RNA-based therapeutic strategy for Spinal and Bulbar Muscular Atrophy (SBMA), a rare and currently untreatable neuromuscular disorder. Read more: tinyurl.com/d37tvuxb

To stay up to date with news from the OHC and the wider rare disease community, sign up for our quarterly newsletter. The OHC newsletter contains updates on our latest projects, funding announcements, events, and initiatives. Sign up now: oxfordharrington.us17.list-manage.com/subscribe?u=...

At just 4 weeks old, Albert was diagnosed with a rare neonatal epilepsy, thanks to rapid genetic testing. His mum shares how a precise diagnosis gave Albert a fighting chance, and why more progress is still needed. Read more: shorturl.at/pKH6o Support Albert: shorturl.at/rAI6v #RareDisease

Professor Michele Jacob, one of ten 2024 Oxford-Harrington Rare Disease Scholars, is developing the first targeted treatment for CTNNB1 syndrome, a rare genetic disorder with no current therapies. Read more about the project:🔗 lnkd.in/gntnHenF

Despite promising scientific advances into new therapies, many rare and ultra-rare diseases remain without treatments due to lack of funding for clinical development and trials. Link to the full article: shorturl.at/pvyoC

We’re delighted to announce that Dr Antonio García Guerra has received the first FA Alliance Catalyst Fund award. His project will develop a non-viral gene editing platform to correct the frataxin gene in cardiac muscle cells, advancing urgently needed therapeutic strategies for FA.

Are breakthrough therapies for ultra-rare diseases within reach? At the 2025 #PrixGalienUKForum, OHC Director Prof Matthew Wood joined global leaders to discuss the future of individualised medicine. Watch the panel chaired by Dame June Raine: lnkd.in/dP8_zbAE

📢Applications are still open for the FA Alliance Innovation Fund. Up to £100k available for bold, high-impact R&D projects in Friedreich’s Ataxia. Open to Oxford researchers. Deadline: 18 June 2025 More info: shorturl.at/i5BwY 🔗

Cystic fibrosis affects 105,000 people across 94 countries and is one of the most common life-threatening rare diseases worldwide. An OHC research project is developing an innovative approach to treat this genetic disease and improve patient outcomes. #CysticFibrosis #RareDisease

At last week’s Harrington Discovery Institute Scientific Symposium, OHC Advisory Council Chair, Former UK Prime Minister David Cameron, joined global scientific leaders to spotlight progress in drug development for a variety of conditions, including rare diseases. Read more: shorturl.at/ri7QU

This Saturday was #FAAwarenessDay — a powerful reminder of the urgent need for progress in #FriedreichsAtaxia research. Oxford researchers can now apply for the FA Alliance Innovation Fund until 18 June, 2025. 🔗 lnkd.in/dCDa4eP3 #CureFA

Dr Bowen Li, Assistant Professor at the University of Toronto and 2024 Oxford-Harrington Rare Disease Scholar, is developing RNA-based therapies for #CysticFibrosis. Read more: shorturl.at/3MOZS

FUNDING ALERT: The FA Alliance Innovation Fund is open for applications!🚨Do you have an innovative research hypothesis to test in Friedreich’s Ataxia? Apply now for funding up to £100k by 18 June 2025. 📩 Email: [email protected] 🌐 More info: shorturl.at/tpIfY

May is Cystic Fibrosis Awareness Month. CF affects 105,000+ people worldwide, causing serious respiratory and digestive challenges, which require lifelong management. #CFAwarenessMonth #CysticFibrosis #RareDiseases

The 3rd of May is #WorldAlstromSyndromeDay! To learn more about this ultra-rare genetic condition, read our Q&A with Kerry Leeson-Beevers, CEO of Alström Syndrome UK. Read more: lnkd.in/dFjTNJ3n #AlstromSyndrome

We’re pleased to welcome Majid Jafar, global business leader, philanthropist, and co-founder of the Loulou Foundation, to the Advisory Council of the Oxford-Harrington Rare Disease Centre. Read more: tinyurl.com/2emjxp48

Scholar Spotlight: Meet Professor Louis Chesler, a 2024 Oxford-Harrington Rare Disease Scholar, working to transform treatment for rare brain cancers using innovative, switchable CAR-T cell therapies. Read more: lnkd.in/dfyEHWPQ

Yesterday, we were at the MitOX 2025 annual conference by The Nuffield Department of Women's & Reproductive Health. It featured an excellent programme of talks and posters on mitochondrial research: cancer metabolism, neuroscience, diabetes, mitochondrial disorders and general mitochondrial biology.

We’re delighted to see validation of the AlveoGene InGenuITy® platform in use in the first inhaled lentiviral gene therapy trial for cystic fibrosis. This is the first company in the Oxford-Harrington Accelerator following co-investment by Harrington Discovery Institute & Oxford Science Enterprises.

Today, the OHC is at the Rare Disease Research UK 2nd Annual Conference in Manchester. Looking forward to insightful discussions, including a panel on industry partnerships and regulatory frameworks that accelerate innovation for rare disease research and treatments. #RDRUKConf #RDRUK

The momentum from Rare Disease Day continues! Read the recap of last month's OHC activities, such as launching our official video and sharing insights in Rare Revolution Magazine, Citeline and Scrip, and the Strategy& Insider Podcast. Read more: tinyurl.com/5n7s85fn

Baroness Nicola Blackwood, Chair of genomicsengland.bsky.social and member of OHC's Advisory Council, is at the forefront of rare disease innovation. Diagnosed with Ehlers-Danlos Syndrome, she understands the urgent need for faster diagnoses and better treatments. Learn more: lnkd.in/g5NR_5hY

The Oxford-Harrington Rare Disease Scholar Award Call is closing soon! MD and PhD researchers in the UK, US, and Canada: apply by 10th March 2025 for a chance to receive £100,000/$100,000 in grant funding, therapeutics development support, and more. To learn more and apply: lnkd.in/dXQHfEN6

This Rare Disease Day, we illuminated the Magdalen College Chapel Wall magdalenoxford.bsky.social as part of the Global Chain of Lights, raising awareness for the nearly half a billion people worldwide living with a rare disease. #RareDiseaseDay #GlobalChainOfLights

🧬 95% of rare diseases have no treatment. This Rare Disease Day, we’re working to change that by accelerating breakthroughs—40 new treatments by 2034—through world-class research & drug development. Learn more: tinyurl.com/2ab5zecf #RareDiseaseDay #CareForRare www.youtube.com/watch?v=sKEf...