Resources for patients
We know it can be frustrating waiting on new treatments
We know that living with a rare genetic condition can mean waiting a long time for answers, and often for treatments that do not yet exist. The MRC CoRE in Therapeutic Genomics is working to change this by developing new ways to make genetic medicines faster and easier to develop. We are still doing the research, so we are not yet able to provide therapies to individual patients. We have put together these resources to help patients and families understand more about our work, find information and connect with organisations supporting people affected by rare genetic conditions.
Is the MRC CoRE providing therapies?
No. We are working to understand how these therapies might be delivered, and exploring the strengths and weaknesses of various tools, but we are not (yet) ready to deliver these therapies to humans.
We are not ready to work with specific patient cases yet – but if you would like to get involved we highly recommend you get in contact with one of the patient advocacy groups below.
We will work with those groups when we are ready to start engaging with patients.
What resources exist for patients and their families?
UK NHS knowledge hub for rare disease patient advocacy groups: https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/rare-disease-patient-advocacy-groups/
UK Umbrella groups
- Syndromes Without A Name: https://undiagnosed.org.uk/
- UNIQUE (rare chromosomal disorders support group): https://rarechromo.org/
- GRI disorders Empowerment Group: https://gri-uk.org/
- Genetic Alliance Patient Empowerment Group: https://geneticalliance.org.uk/campaigns-and-research/making-our-communitys-voice-heard/patient-empowerment-group/
- Rare Disease Research Partners https://www.rd-rp.com/
International Umbrella Groups:
- Rare as One Network (supporting patient-led organizations working to improve the lives of people affected by rare disease): https://chanzuckerberg.com/science/programs-resources/rare-as-one/
You may also be interested in the Rare Rebels storytelling project: https://rarerebels.com/
- UPNAT (UK Platform of Nucleic Acid Therapy for rare disease treatment): https://rd-research.org.uk/node/upnat/
- N=1 Collaborative (working to make individualised medicines possible): https://www.n1collaborative.org/
- Oxford Harrington Rare Disease Centre (seeking to bring 40 drugs into clinical trials by 2035): https://www.oxfordharrington.org/
- Dutch Center for RNA Therapeutics (working to provide RNA therapies for disorders of brain, spinal cord and eye): https://www.rnatherapy.nl/contact
Our GeneBreakthrough video series is designed to help patients, families and anyone interested in genetic conditions better understand the science behind gene therapies. Through accessible explanations of complex research, these videos offer an introduction to how genetic treatments work and the advances being made towards developing new therapies.
Check them out here: