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
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."