|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|
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.|