Kay ParkinsonCEO 14th September 2015

THINKING OUTSIDE THE BOX

Lucy McKay, one of five medical students who founded the Barts and The London Society for Rare

Diseases in 2011, explains:“At medical school we are taught about the

common things because they are what we are most likely to see. The mantra is ‘common things are

common’.

RARE DISEASES EXIST!

Rare diseases exist as well and if you don’t learn to think outside the box you’ll never consider them in your diagnoses”

“Around fifty per cent of medical students will become GPs and, as the initial point of call in our healthcare system, it is vital that they are able

to recognise the signs of rare diseases so that they can ensure the patient receives the necessary care and correct referrals.”

http://www.rarediseases.co.uk/research/training-a-future-generation-of-doctors-to-diagnose-rare-diseases#.Vd2ZU0GFO1s

The Team

A huge thank you to the many volunteers who greatly contributed.

Tim GuilliamsFounding Director

Jelena AleksicFounding Director

Kay ParkinsonCEO

Jo BalfourConference Director

Abbi SignsFounding Member

Flóra RaffaiFounding Member

Tamzin ByrneFounding Member

Richard SmithFounding Member

Narissa GippFounding Member

Alan BarrellFounding Trustee

Nick SireauFounding Trustee

Alastair KentFounding Trustee

REALITY FOR MANY RARE DISEASESUndiagnosed “Dis-abled”Finding out who knows?Medical Systems-Highly specialisedDivide up diseasesNo overview, little informationFew treatmentsPatients become pilots of their disease

RARE DISEASES – THIRD SECTOR

Third sector organisations have led the way.Genetic Alliance, Rare Disease UK, Findacure,EU wide EURORDIS Technology-informed patients Value patient groups-critical massPatients as partners in medicinePatients and industry?

CRDN INITIATIVESOrganising dynamic multi-disciplinary events.Forming a community of active stakeholders in rare disease research.Building on Cambridge’s strength in biotech and research.Develop new opportunities for patient/industry collaborations.

A network of Change Champions –Accelerating ChangeHarnessing multi-disciplinary skills from all sectors.Raising awareness of novel training needs.Faster drug development routes?Developing pathways to reach “unheard of” diseasesRare Disease patients – time challenged.Their clock is ticking faster..................

CRDN HELPING TO FIND THE WAY

WHATCAN/ SHOULD INDUSTRY DO? Take Home thoughts!

Be involved sooner with rare disease patient groups?How?Registries?-need to be independent of one doctor who often takes “ownership”, preventing movement and development.Ensure equal representation on med/sci committees of patients /carers who may wish to take greater risks when conditions are life limiting.“Intervene” help to change the natural history of the disease- impacts may benefit many conditions especially if the rare disease affects multiple organs.Hospitals should not be the natural home for rare diseasesRare diseases need scientific research in multi disciplinary rare disease centres.ADOPT an ORPHAN!

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