The EpiGenRare node facilitates research into the epigenomics of rare diseases by collaborating with experts from Manchester, Exeter, London, and Birmingham, spanning relevant disciplines, along with partners in industry, and patient support groups. This collaborative effort aims to address several unmet needs and expedite the diagnosis and treatment of epigenetic disorders.
The three challenge areas the node aims to tackle are as follows:
1. Generating a resource linking patients’ genomic and epigenomic data.
2. Performing preliminary studies in animal models to test if similar treatment approaches could be used for multiple epigenetic diseases that share clinical features and biological mechanisms.
3. Generating a resource of well-studied human cell models for large scale drug testing in epigenetic diseases.
In addition to the projects above, the node will continue to work with various patient-family support groups in co-developing patient information resources, organising family education days and working together to develop evidence-based management guidelines for epigenetic disorders.
