Thought provoking day of speakers at Robinson college, Cambridge#crdn2016.

The introduction from new chair of CRDN Alistair Kent OBE was followed by a panel of ‘Powerful Voices’ where patient organisations are shown to be integral to making change in rare disease: quote from Ben Howlett MP “patient organisations make massive amounts of change”.

We heard from research and pharma and had an opportunity to uncover that whole genome sequencing (WGS) in its current state (as used in the 100,000 genomes project) may not necessarily detect the presence of a ring chromosome and asked what can be done if anything to change that? (we have discussions ongoing with Dr Richard Scott – geneticist at GOSH and Clinical Lead for 100,000 genomes project)
In the afternoon, we learnt about the wonderful facility that exists in Norway run by Frambu- a multi-disciplinary centre for rare disease, cantered around the patient and their families, followed by Larissa Kerecuk (amongst others) highlighting the new rare disease centre for children here in the UK, due to open mid-2017.

Throughout the day patient organisations (including ourselves) were actively encouraged to be involved in the discussions. Speakers made reference on a number of occasions to ‘Dr Google’ – which is now a power tool in helping making a diagnosis in rare disease cases – highlighting the power of the internet and why our rare disease [r(20) must have a presence.
The most exciting opportunity is that we have been offered to host a dedicated multi-disciplinary r(20) clinic at the new rare disease centre – something we will definitely follow-up on, as it would be a 1st of its kind and we may be able to host in collaboration with the adult rare disease centre next door, covering both adults and children with r(20) alike. Watch this space…

We also got to understand just how important it is for us to establish a patient registry for r(20) and begin to chart the natural history of the syndrome for researchers, clinicians and pharma biotech companies looking to provide better treatments in the future

None of us really knows what the impact of Brexit is likely to be for cross border health initiatives but there is definitely a willingness amongst existing organisations toward collaboration and the establishment of European Reference Networks (ERN’s) that work collectively on treatments and protocols to maximise and standardise diagnosis protocols and improve care for rare diseases.

We as a patient organisation have already registered our interest through our own collaborative efforts with Prof Helen Cross at UCL Institute of Child Health and have signed up to be part of that initiative.

Being part of that ERN presents us with a great opportunity to contribute to that patient registry as part of a larger cohort for more research and potentially clinical trials.  There will be further updates which we will be reporting back on hopefully in January 2017 when decisions are being made about its structure and membership.