CMFT consultant to co-ordinate European network for rare diseases

Central Manchester University Hospitals NHS Foundation Trust staff marked Rare Disease Day 2017 with a number of activities within the Royal Manchester Children’s Hospital.

Staff from the clinical, laboratory and research teams within Manchester Centre For Genomic Medicine manned a stall to provide information to parents and fun activities about rare conditions ranging from making genetic code bracelets to actually being able to see and take home your own DNA.

Those participating included Professor Jill-Clayton Smith, Consultant Clinical Geneticist at CMFT, who, on Rare Disease Day was also named as the network co-ordinator for the European Reference Network (ERN) for congenital malformations and rare intellectual disability (ERN-ITHACA), to be led from CMFT.

ERNs are new virtual networks bringing together healthcare providers across Europe to tackle complex or rare medical conditions that require highly specialised treatment and a concentration of knowledge and resources.

Approximately 3.5 million people in the UK will be affected by a rare disease at some point in their lives, and 30 million across Europe.

Because of the low prevalence of these conditions, specialist knowledge is often scattered across many countries. The 24 thematic ERNs, several of which will involve CMFT participation, will span over 900 highly specialised healthcare units from 26 countries, giving healthcare providers access to a much larger pool of expertise.

To enhance a patient’s diagnosis and treatment, some of the ERNs will encompass virtual advisory panels of medical specialists across different disciplines, using dedicated IT platforms and telemedicine tools.

The ERNs will also enhance research and training by collaborating on research studies, setting up patient registers for research and clinical trials and facilitating exchange visits between centres for trainees.  The most important thing about the ERN’s, however, is that parents and patients have been involved in these from the start and will continue to be core members of the networks, ensuring that their activities are directed towards what patients really need.

Professor Jill Clayton-Smith said: “Rare Disease Day is a wonderful opportunity to raise awareness about a range of conditions and the support available to them here in Greater Manchester. Our stall did just that, as well as highlighting research opportunities. One of the studies we highlighted was the UK 100,000 genomes study, an NHS initiative which is offering genetic testing of the whole of a patient’s DNA in situations where all other investigations have failed to provide a cause for a rare disease. Our Genomic Medicine centre has already recruited around 1600 patients to this study and we are starting to see results coming through which will have real benefit for patients.

“We were especially grateful, to the families with rare diseases who stopped by to share their individual experiences with us. We gave out a number of information leaflets to patients, but we, too, gained a lot of information, simply by listening to patients’ stories. A wide range of staff within CMFT deal with patients with rare diseases, and we would like to develop our activities in this area. We are keen to know of clinicians who care for cohorts of rare disease patients so that we can make a comprehensive directory of these services within CMFT.

Leading on ERN-ITHACA is a tremendous honour for Manchester Centre For Genomic Medicine, and provides a platform from which Manchester can be a European lead on congenital malformations and rare intellectual disability. I hope that by sharing expertise across European partners, we can advance our understanding of rare diseases and develop effective new treatments over the years ahead.