Gene therapies represent tremendous potential for patients living with severe and hard to treat genetic diseases. Our ambition is to lead research into a new gene therapy approach for COL4A1. However, funding for research into rare diseases is still a challenge. In collaboration with families impacted by this condition, we are raising funds to support this pioneering project. Can you help us?
COL4A1-related disorders are a group of rare genetic conditions that are characterised by fragile blood vessels. The conditions in this group have a range of manifestations including abnormalities of the brain, eye, kidney and blood vessels. The signs and symptoms can become apparent at almost any age from before birth to old age.
One of the biggest challenges for this disorder, and for rare diseases generally, is that there are no standardised treatment protocols or guidelines for affected individuals. Funding is also a major challenge; because rare diseases affect a small number of people relative to cancer or cardiovascular disease for example, they are often considered lower priorities when it comes to allocating research funding.
Although individually uncommon, collectively rare diseases affect a huge number of people - roughly 350-400 million people worldwide, or between 5-10% of the worlds population. Most rare diseases affect children and many are fatal or severely disabling. This great unmet need makes it imperative that we find new treatments to help the many patients and families who are in search of better treatments.
However, there is great hope. Medicine is evolving and innovations in gene therapies show outstanding clinical potential for treating rare genetic conditions such as COL4A1-realted diseases. Gene therapy is the introduction of a new gene to a patients cell to replace, silence or manipulate the faulty one. The goal of gene therapy is to restore normal function in affected tissues or cells, potentially enabling a patient to live without the need for ongoing treatments. To achieve this, a custom-made virus vector is used to deliver the genetic material into patients cells.
Our ambition is to embark on a new project to silence the abnormal COL4A1 gene using a technique called shRNA delivered to the cells using a virus or other means. We believe that silencing the abnormal COL4A1 gene could lead to the manufacture of normal collagen in cells and will improve symptoms of the condition.
The UK has a world-class genetics research base and the University of Sheffield is a leading player. We are the first site in the UK delivering both stem cell transplantation for multiple sclerosis and genetic therapies for Amyotrophic Lateral Sclerosis (ALS) clinical trials. We are renowned for our translational neuroscience research through the Sheffield Institute for Translational Neuroscience (SITraN) and the Neuroscience Research Institute. Sheffield is home to the only National Institute for Health Research (NIHR) funded Biomedical Research Centre in the UK a collaboration between the University and the Sheffield Teaching Hospitals NHS Foundation Trust, which is one of the UKs largest and most successful hospitals within the UK National Health Service (NHS).
A new Gene Therapy Innovation and Manufacturing Centre (GTIMC) is currently being built in Sheffield and is part of a pioneering network of Gene Therapy Innovation Hubs in the UK dedicated to the clinical development of genetic medicines. The GTIMC will manufacture the viral vectors required for gene therapeutics and provide the critical expertise to swiftly move potential new treatments through early phase clinical trials to commercialisation, helping the most innovative research to reach patients.
At Sheffield, we have all the necessary expertise and the facilities to carry out this research in preclinical models of the disease. Once that part of the project is complete and if successful, we will be in a unique position to start clinical testing, thanks to the GTIMC, which can manufacture the gene therapy treatment in Sheffield.
All funding received will support an outstanding Post-Doctoral Researcher for three years to lead on this research.
We invite you to be a part of this vision, which could influence the future treatment of COL4A1-related disorders and the health outcomes for people affected by them.
Thank you for your support
If you have any questions please contact giving@sheffield.ac.uk
For more information please visit - https://www.sheffield.ac.uk/giving/causes/research/col4a1
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