The disease models and therapies team, within the Perkin Preventive Genetics Group, is focussed on developing tools and treatments for severe, rare and currently incurable genetic muscle diseases. The team has two main aims;
- Developing new cell models to better understand muscle disease.
We take the patient’s own blood cells (ethically derived and minimally invasive), and are able to turn these into a special type of cell called an induced pluripotent stem cell (iPSC). These iPSCs can then be turned into disease-relevant cell types including skeletal muscle. So, we can take a patient blood cell and turn it into a muscle cell! These patient-derived muscle cells can then be used to advance our research, by modelling the features of the disease in a dish, without the need for taking a painful muscle biopsy. These cells are also essential for the second aim of the Team – developing treatments.
- Designing and testing new treatments for muscle disease.
We are working on a range of targeted genetic treatments that address the underlying cause of genetic muscle disease. These treatments include genome engineering (CRISPR/Cas9) and antisense oligonucleotides (ASOs). We collaborate with world leading scientists and use a range of cutting-edge technologies to design and test our patient-centric treatments.The ultimate goal of the team is to provide urgently needed treatments to as many rare disease patients as possible.