My journey to reach the roof of Africa

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Pulling the Strands Together

DNAIn the largest ever study of PSC a global team of investigators have studied the genes that contribute to why someone develops PSC. This work is of huge importance to all interested in developing new therapies for patients with PSC, and has understandably generated a lot of excitement for patients and clinicians.

First and foremost it reflects an enormous effort on the part of patients and investigators to collect DNA samples from so many people with PSC across the world.  This in its own right demonstrates how it is possible to make progress in understanding a rare disease, by multiple groups working together.  It is hoped this will continue in the future, with patient organisations such as PSC Support.

Secondly the genetic findings are striking, for identifying new immune genes that are associated with the risk of developing PSC. Collectively with prior genetic studies, this latest work contributes enormously to the slow but steady effort to piece together the puzzle of why a patient gets PSC/colitis.  If medical researchers can better understand this, then it is hoped they can better design new therapies to treat the disease more directly.  Efforts will continue to discover more genes associated with PSC, but more importantly to model experimentally how they actually contribute to PSC itself.

If you’re interested, the genetics paper can be accessed at Nature Genetics. A brand new state of the art review will also very soon appear in the medical journal The Lancet on PSC, which brings together all the latest advances in disease understanding.

We’re still some distance from proven PSC therapies or a cure but it finally feels like there is real momentum and increasing understanding of the mechanisms of this horrible disease.


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A Double Pendle To Go Please

DSCF0699Tuesday evening Jeff and I took quick jaunt up and around Pendle Hill. We were having so much fun we went up and down it twice!  As it’s only about a 25 minute drive away it’s a great evening hike as we approach the final weeks of training. Weather was a lot milder and very little wind compared to our previous Pendle hike.

We set off up the eastern flank of hill around 7pm taking the right hand stepped path. I kept my poles on my pack to really give my legs the full benefit of the climb. Our pace was good and we were both breathless and red by the time we reach the peak plateau around 25 minutes later.

A quick drink and a few moments to take in the views across Lancashire and up and over to the Yorkshire Dales and we were off on our way down again. Jeff led the way as we took a direct route down Pendle’s steep eastern slopes. Here the poles were most definitely needed for stability and well laced footwear to stop your foot banging into the boot’s toe box. Underfoot were spongy moss and fern interspaced with small sections of peat and rocks. I’ve ready the descent from Kilis peak is also very steep and full off loose scree so whilst the descent angle might be similar the materials underfoot will be very different. I took a “zig zag” approach to working down to shallow off the angle but managed to keep up a quick rate down until we picked up another assent path.

This time we climbed up a longer and slightly shallower path back to the top before another quick rest at the summit trig point. From there was back down our initial path and back to the car. A short hike in terms of distance but it was almost all either climbing or descending so good exercise for us both. I’ve posted a few photos to the Kilimattjaro Facebook page and you can see climb stats here.

With our Kilimanjaro trip now just 45 days away we’re in our peak training (pun slightly intended 😉 )period.