Transforming genetic medicine for rare disease
We are the MRC Centre of Research Excellence in Therapeutic Genomics, bringing together scientists, clinicians, patients and partners to improve treatment for rare genetic disease.
We are developing flexible therapeutic platforms that can be adapted across many conditions, rather than one disease at a time. We begin with rare single-gene disorders affecting the blood, eye and brain, and use what we learn to help speed the path from diagnosis to treatment.
Our work spans five research themes and is grounded in collaboration, responsible research and a shared commitment to making genetic medicine ready for real-world use.
Welcome from the Director
When I established the MRC CoRE in Therapeutic Genomics in 2025, I did so with a bold and singular vision: to move genetic medicine from a series of high-profile "one-off" clinical anecdotes to an ordinary, customisable therapy platform. Our mission is to "make genetic medicines routine"—to build the open-source tools and de-risked delivery pipelines necessary to go from a patient's diagnosis to a bespoke therapy in just 100 days.
Professor Stephan Sanders
Director, MRC CoRE in Therapeutic Genomics
Latest news
Blood
Working to develop a robust, end-to-end pipeline for gene editing therapies, starting with T-cell approaches. The initial focus is on primary immune deficiencies associated with Epstein-Barr virus (EBV), but we also help to create a template for "how to deliver gene therapies" with every step in the process from patient engagement and consultation, through to regulatory approval. We hope to be ready to submit a Clinical Trial Application by September 2027.
Brain
The Brain Theme is concentrating its efforts on neurological diseases, aiming to systematise therapeutic discovery by: deploying a CRISPR/dCas13-based perturbation platform (CRISPR-Lock) to upregulate protein expression in haploinsufficient disorders, disrupting upstream open reading frames (uORFs), and leveraging large language models (LLMs) to predict optimal ASO sequences; critically, the UCL team also aims to test allele-selective ASOs in first-in-human clinical studies by September 2027.
Eye
The Eye Theme is working to develop and validate multiple, distinct gene therapy strategies for inherited retinal diseases (IRDs) and age-related macular degeneration (AMD). We will work on three parallel projects exploring different therapeutic modalities to address the diverse genetic causes of blindness, to develop a comprehensive approach to ophthalmic gene therapy in vivo.
Genomics
The analytical engine of the MRC CoRE, providing a centralised, CoRE-wide toolkit and data framework. Their work includes two major strands: first, to create decision-support tools and computational models to guide the therapeutic development efforts of the Blood, Brain, and Eye themes; and second, to identify patients and genetic variants amenable to nucleic acid therapies - working closely with our PPIE Manager to develop effective and ethical communication with patients.
Delivery
The strategic mission of the Delivery Theme is to overcome the challenge of transporting therapeutic agents across the blood-brain barrier (BBB) to treat neurological diseases.
We will screen and validate new delivery vectors, beginning with an rAAV capsid library screened specifically to address the challenge of delivering therapies developed by the Brain Theme to key regions like the cortex and striatum. The theme’s expertise and capacity for vector manufacturing will also help with therapy design and supply for other research themes.
