28 September 2013

The Great DDD Bike Ride

Common things are common and rare things (collectively) are even more common. Thus runs my mantra for the medical students. If you hear clippety-clop outside your window, you are often told, you should think of a horse before you think of a zebra. WRONG, I say. You should think of a horse and non-horse, attach appropriate probabilities to each, and make sure you know what you're doing before taking any decisions based on your assessment.

The Irish DDD riders assemble in Kilkeel

Rare diseases are a lot more common than you (and most doctors) think, and they need to be tackled. The DDD Project, based at the Wellcome Trust Sanger Institute in Hinxton, near Cambridge, is a groundbreaking study using sequencing of the entire coding region of the human genome to try to uncover the basis for many rare and severe birth defects and malformation syndromes. It involves collaboration with all 24 Genetics Centres in the UK and Ireland, in order to recruit 12,000 patients for analysis. It is supported by the rare disease community, and in an attempt to raise awareness and give something back, the geneticists and genetic counsellors involved in the study are cycling all over these islands this weekend (28-29 September 2013).

CLICK HERE to support the effort (we're trying to raise £12,000 for the charities Unique, GRDO and SWAN).

Riders from the Belfast and Dublin genetics centres met half-way (sort of) in the beautiful County Down town of Kilkeel at the foot of the stunning Mourne Mountains to do their bit. As you can see from the photo, we were a fairly motley crew, and although our ride route turned into a bit of an exploratory expedition rather than a point-to-point, the glorious weather and the cheery encouragement of the locals spurred us on, as we visited such amazing spots as Silent Valley dam, Attical, and the astonishingly-named Aughnaloopy Road (yes, it's real).

We respect the atmosphere at Silent Valley Reservoir
Now I'm not saying that other regions of the UK and Ireland are not exceptionally lovely, but you would be hard pressed to find scenery more amazing than the Mourne Mountains. Our route skirted the foothills, but we managed to avoid any injuries (large agricultural machinery being a particular fun challenge on some sections) and arrived back in Kilkeel just in time for afternoon tea. A superb effort by all concerned.

And of course all of this is about rare disorders. One person in 17 in the Western World has a rare disorder, the majority of which are genetic. One in ten families are affected directly by such a rare disorder, and that number may itself be an underestimate. The impact on these families can be enormous, and they can be very expensive to manage and to live with. So they are common, they need research, and they need awareness. The bike ride is just a small step, or a turn of the pedals, on this path. Please support this effort, and encourage your political representatives to do likewise.
Two primitive MAMILs in their natural habitat.

21 September 2013

FutureProof at the Science Gallery

If you'd been in Dublin on 19 June, you might have toddled along to the Science Gallery and seen Tara O'Neill, Kevin Mitchell, me and others discussing Jonathan McCrea's DNA. But if you missed it, you can see it again here!


Enjoy! I'm on from about 40 mins in, but make sure you don't miss our fantastic Genetic Counsellor Tara O'Neill and the razor-sharp analysis of the excellent Kevin Mitchell prior to that. Watch all the way through for maximum education and entertainment...