Transforming genetic medicine: from diagnosis to personalised treatment
We are a team of scientists, doctors and other partners working together to improve treatments for rare genetic diseases.
Our work focuses on genome-targeted therapies. These are treatments designed to act on specific changes in DNA, rather than treating symptoms alone.
Today, most genetic medicines are developed one disease at a time. Each treatment is usually made for a single disorder. We want to change this approach.
Instead, we are building flexible treatment platforms. A platform is a shared method or technology that can be adapted to treat many different diseases. This makes it easier to develop new treatments more quickly.
We are starting with Genetic Rare Disease (that is, diseases that come from “genetic typos” in a single gene). At first, we will study a few example diseases that affect the blood, eye and brain. What we learn from these conditions will help us design treatments for many other genetic diseases in the future.
We want to change the way genetic medicines are created and provided to patients.
Instead of delivering standalone therapies for individual disorders, we want to make customisable platforms for treating many disorders.
Explore our five research themes
Genomics
The analytical engine of the MRC CoRE, providing a centralised, CoRE-wide toolkit and data framework.
Eye
Aiming to develop and validate multiple, distinct gene therapy strategies for inherited retinal diseases (IRDs) and age-related macular degeneration (AMD), using in vivo gene editing techniques.
Delivery
Working on a range of options to transport therapeutic agents across the blood-brain barrier (BBB), to treat neurological diseases.
Brain
Aiming to move away from a "one-by-one" approach to choosing therapeutic targets for neurological diseases, and instead to develop a suite of flexible tools for gene regulation in the brain.
Blood
Starting with primary immune deficiencies associated with Epstein-Barr virus (EBV), we will create a template for "how to deliver gene therapies": every step in the process from patient engagement and consultation, through to regulatory approval.
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Research Themes
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.
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.
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.
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.
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.