Behind Every Rare Disease Discovery Is a Human Story
Behind every breakthrough in rare disease research is a person whose experience helped make it possible. Patients and families are at the heart of progress—and their stories help transform science into life‑changing medicine.
The Oxford‑Harrington Rare Disease Centre helps advance breakthrough science into treatments by listening to the real experiences of the rare disease community. Stories shared by patients and caregivers have already helped researchers better model rare neurological diseases in the lab and supported doctors in making critical treatment decisions.
Your experience can:
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Help researchers understand rare diseases more deeply
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Inspire scientists, clinicians, donors, and other families
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Accelerate the development of new therapies for rare diseases
Your story matters. By sharing your journey, you can help shape the future of rare disease research and treatment.
The Oxford‑Harrington Rare Disease Centre (OHC) is a transatlantic partnership that identifies and advances high‑potential early‑stage science from academic labs toward clinical development. By combining philanthropic funding with world‑class drug development expertise, OHC accelerates promising discoveries into new therapies for people living with rare diseases.
Advancing Breakthrough Science Into Life‑Changing Medicines for People With Rare Diseases
Rare diseases affect millions of people worldwide, yet effective treatments remain limited. At the
Oxford‑Harrington Rare Disease Centre (OHC), we are working to change that—advancing
breakthrough scientific discoveries into real medicines that can transform the lives of rare disease
patients.
We do this by:
- Advancing high‑potential discoveries from academic labs into life‑saving medicines through the combined expertise and resources of the Harrington Discovery Institute and the University of Oxford.
- Embedding industry drug‑development expertise directly into academic research to accelerate progress toward the clinic.
- De‑risking early‑stage scientific discoveries with philanthropic capital, helping promising therapies move forward faster.
Transformative Projects in the OHC Pipeline
Across disease areas, our scholars translate cutting-edge science into a broad range of therapeutic programmes.
Targeting Spinal and Bulbar Muscular Atrophy
Professor Carlo Rinaldi, 2024 Oxford-Harrington Rare Disease Scholar, is developing a therapy to target mutant androgen receptors in spinal and bulbar muscular atrophy.
Gene Therapy Breakthrough for Rare Eye Cancer
Dr Jacquelyn Bower, 2024 Oxford-Harrington Rare Disease Scholar, is developing a novel gene therapy to stop tumour growth and prevent metastases in patients with uveal melanoma.
About the Oxford-Harrington Rare Disease Centre
Over 400 million people worldwide live with a rare disease, yet 95% of rare diseases have no available treatment. The Oxford-Harrington Rare Disease Centre is on a mission to change that.
Albert's Story
Shortly after birth, Albert began having frequent, severe seizures.
At just three days old, he was placed in a medically induced coma in paediatric intensive care.
Thanks to advances in genetic testing, Albert was able to obtain a precise diagnosis and a targeted treatment plan when he was just four weeks old.
Albert's mother, Louise Utton, shares her son's journey and the real-life impact of genetic testing in Albert's diagnosis.
