Image Credit: NPUK
Niemann-Pick diseases are one of many rare groups of genetic disorders that are largely unheard of. As such, the amazing work and research that goes into improving the lives of sufferers, and hopefully developing a cure rarely gets the recognition it deserves.
The three Niemann-Pick diseases (A,B and C) are caused by inherited lysosomal storage disorders, either due
to deficiency in the acid sphingomyelinase enzyme (ASM) in Types A and B, or accumulation of lipids in the liver, brain and spleen in Type C. This is debilitating and sadly fatal to patients, with the only treatment being
palliative, there is currently no cure.
A dozen researchers from the Platt Lab at the University of Oxford and the Rahim Lab at UCL are working to change this. On top of their research into treatments, the team are embarking on a cycling challenge in order to raise awareness and fundraise for the Niemann-Pick UK charity and the Niemann-Pick Research Foundation.
The scientists aim to cycle seventy miles over two days, and the charities will use the money raised to provide support to patients, as well as researching potential therapies.
One of the scientists from Oxford, Dave Smith, describes the challenge:
“… on the 19th and 20th September we are going to attempt to cycle from our labs in Oxford to the NPUK Annual Family Conference near Cambridge. This will be very challenging because some of us have never really cycled before, and certainly not this far!”
Donations are currently being raised, and you can find out more here.