DNA Editing: Future therapy for genetic conditions? It can’t have escaped your notice that in the past few days the latest development in DNA editing has featured heavily in the media as news emerged of scientists from the USA and South Korea successfully removing a piece of faulty DNA from an embryo. Not untypically, the[…]
100,000 Genomes Project With thanks to Jackie Evans, Mel Kershaw and Emma Wolfenden, a few words on signing up for the 100,000 Genomes project… I’ve taken part in several research studies over the years, the first being a comparative study of Ciclosporin and Sirolimus to which I enrolled on the day of my kidney transplant[…]
It’s almost two years since I wrote a blog called Parental Dilemma in which I posed the question in relation to a genetic disorder “would you test your child or would ignorance be bliss?” The genetic disorder in question was Autosomal Dominant Polycystic Kidney Disease (ADPKD) and it caused the complete failure of my kidneys[…]
Cristina and I have given a few presentations about GMKIN in the past few months but they felt like rehearsals for the main event, the British Renal Society Annual Conference which this year was held at Leeds University. Our journey to Leeds didn’t bode well for the rest of the conference: motorway traffic jams, a[…]
Hi everyone thanks for all the kind comments and support. Sorry I have been off here for awhile but the last few months have been pretty tough. My first operation had gone really well and I recovered brilliantly so I thought I was ok and went back to work relatively quickly, which was a big[…]
Hi everyone, thanks for all the comments and support from my previous blog. I saw the consultant a few weeks ago and he was really happy with my progress – the operation was a success and the scar has healed well. We went through the consent forms for the next operation and this is scheduled[…]
Hi every one, thanks for the nice comments on my previous blog. I had the first aneurism treated on the 21st January and (fingers crossed) it all went completely according to plan. I have to admit that I was very scared before the operation but as you would probably expect I was incredibly well looked[…]
Hello and how are YOU doing? The name’s cathy, I’m 21 years old and I have PKD. The problem with acronyms is that they make things sound a lot more scary than they are. PKD stands for Polycistic Kidney Disease, and all it means is that there are multiple cysts on kidneys. Yes, it is[…]
I turned 31 in August and found out I had APKD in April last year. My mum has the condition and her father died of it at the age of 61. I look very similar to my mum and we are very similar people generally and therefore deep down I always thought I would have[…]
I suffer from a genetic condition known as Autosomal Dominant Polycycstic Kidney Disease (ADPKD) in which cysts develop on the kidneys and other organs. The cysts multiply and grow, eventually destroying the kidneys. In common with a number of other people to whom I’ve spoken, I believed that the condition spread down the female line[…]