September e-news: Gene therapy, AKU Workshop, successful PhD, and more
Here’s the September AKU e-news, with some exciting news about a new AKU gene therapy project at Imperial College, our fifth international workshop in Liverpool, news from researchers, patients and families, and a host of scientific AKU papers from teams around the world.
1) AKU Society and Imperial College team up for gene therapy project
The AKU Society is funding a project at Imperial College to investigate whether gene therapy could be used to cure AKU.
Led by Dr Richard Harbottle, a founding member of the British Society for Gene Therapy, the research team will use current knowledge of the genetic cause of AKU alongside their own expertise in liver gene delivery and non-viral vector design to develop a genetic therapy for AKU. If a functional copy of the defective gene can be introduced into the liver cells of AKU patients, these cells would have a restored metabolism and renewed ability to reduce the accumulation of homogentisic acid, which causes the damage in AKU.
Dr Harbottle’s group has developed a novel non-viral vector system that is uniquely suited for this application as it does not use potentially toxic viral components.
Dr Harbottle said: ‘Research into gene therapy for the correction of metabolic disease is a field in its infancy. Although successful gene transfer to the liver has been reported, much work needs to be performed before routine and efficient gene transfer, and ultimately gene therapy, for metabolic disease becomes a reality.’
AKU Society Chairman Dr Nicolas Sireau said: ‘This pilot research applies particularly to AKU but, of course, is not specifically limited to treatment of this disease. Technologies developed here can be applied to the whole field of liver gene delivery and the genetic therapy of metabolic disease.’
2) Register now for the 5th International Workshop on AKU
Venue: Liverpool Medical Institution. Dates: Friday 18 – Saturday 19 November 2011
Science Day – Friday 18 November:
- Building clinical trials for AKU using a disease severity score index
- Nitisinone, from weed killer to wonder drug
- Metabolomic investigation in AKU and OA
- Enzyme replacement therapy for AKU
- Gene therapy for AKU
- Novel biomarkers of cartilage and bone for AKU
- And more!
Patient Information Day – Saturday 19 November:
- The AKU online community, developed with the European Organisation for Rare Diseases.
- Stories from AKU patients about living with the disease
- A demonstration of new physiotherapy techniques for AKU
- Genetic counselling for AKU
- Lay explanations of the latest progress in AKU research
PRICES: 1 day of the Workshop - £60. 2 days of the Workshop - £100.
To book, please e-mail booking@akusociety.org by 31 October 2011.
3) AKU student Adam Taylor obtains PhD and lectureship
Exciting news from Dr Adam Taylor, our first AKU PhD student:
‘On 19 May I had my PhD viva. I had a stern but fair exam which lasted just short of three hours. I am pleased to say I passed with only a few minor changes. I owe a great part of the success to Nick Sireau and Bob Gregory of the AKU Society for putting together the funding for the project, Prof Jim Gallagher and Dr Ranganath for their support and guidance throughout the duration of the project and to my family and friends for the “non-scientific” support. My greatest thanks go to the AKU patients who donated tissues as part of the project. I have met many of you at the AKU meetings and your passion to ‘findAKUre’ gave me inspiration to succeed during my PhD. I graduated in mid-July, on one of the rare days where the rain held off during the typical British summer.
‘I interviewed in June for a post as a Lecturer in Anatomy at Lancaster University at the recently formed Division of Medicine. I will be teaching anatomy to the cohort of medical students in Lancaster and also, I am pleased to say, continuing my research on AKU. So while I am changing location, my research interests will be very much the same. I will continue to focus on AKU as long as there is interest for my expertise and the opportunity to bring benefit to patients. I look forward to catching up with everyone at the next AKU meeting in November.’
4) AKU Society to speak at International Congress on Rare Disease Research
We’ve been invited to speak at the first International Congress on Research of Rare and Orphan Diseases, which will take place from 29 February to 2 March at the Novartis Campus in Basel, Switzerland.
The congress will bring together world leaders and young scientist from university and industry in stem cells, cell biology, gene therapy, human genetic and therapeutic applications to present cutting edge research, discuss results and exchange ideas.
To find out more and register, go to http://react-congress.org/.
5) Garbutts cycle to Lands End to raise money for AKU
Ian and Rosie Garbutt and family cycled 305 miles over Exmoor and Bodmin, with one puncture and one broken spoke to raise money for the AKU Society.
Ian said: ‘We had a few downs but mainly ups and a champaigne reception at Lands End!’
They raised £427 (beating their target by 214%) – all of which will go to supporting our work to find a cure for AKU. Donations can still be made at:http://www.justgiving.com/Ian-
6) Vote for AKU patient Leona Wagner
AKU patient Leona Wagner has submitted an action shot photo to enter a competition of the European Arthritis Foundation (EULAR) specially designed for World Arthritis Day. The slogan for the competition is ‘move to improve’, i.e. how sport can improve mobility or slow down the progress of one's joint disease.
Leona said: ‘I gather I may serve as an example in this respect as my AKU joint pain decreased by going swimming three times a week and twice to the gym. I don't have to take as many pain killers as I had to eight years ago.
‘If I win, the money will be donated to the AKU Society to fund its research. Hence, you will vote for a good cause. By the way, I'm the scuba-diver with the snail.’
The winning price is €250, an invitation to the EULAR autumn conference in Athens and the photo will be displayed in the EULAR calendar next year.
To vote for Leona, go to: http://www.worldarthritisday.
7) New scientific articles on AKU
The AKU research teams across the world have been particularly prolific over the summer, with a number of new scientific articles:
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis, by Braconi et al (Italy):http://tiny.cc/1rf7z.
A novel ex vivo organotypic culture model of alkaptonuria-ochronosis, by Tinti et al (Italy): http://tiny.cc/gy312
A quantitative assessment of alkaptonuria: Testing the reliability of two disease severity scoring systems, by Cox and Ranganath (UK):http://tiny.cc/nv5vm
Natural history of alkaptonuria revisited: analyses based on scoring systems, by Ranganath and Cox (UK): http://tiny.cc/ftkzy
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria, by Introne et al (USA): http://tiny.cc/kprqy
Aortic valve ochronosis: a rare manifestation of alkaptonuria, by Cercek et all (Slovenia): http://tiny.cc/9zqrd
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD), by Gucev et al (Slovakia):http://tiny.cc/rcqsv
An unusual dark pigmentation on the tympanic membrane, by Sagit et al (Turkey): http://tiny.cc/p43o9
Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR, by Chow et al (UK):http://tiny.cc/hgalo
Nuclear medicine techniques in the assessment of alkaptonuria, by Vinjamuri et al (UK): http://tiny.cc/t8m0k
Acral pigmentation in alkaptonuria resembling degenerative collagenous plaques of the hands: a report of five cases, by Thomas et al (India):http://tiny.cc/228g9
Perioperative management of patient with alkaptonuria and associated multiple comorbidities, by Pandey et al (India): http://tiny.cc/eoscr
8) Rare Disease Blogs: the system’s broken, and here’s how to fix it
'Yesterday, I was not happy. I’d been talking to a major funder, trying to find out more about whether we could apply for funding for our fast moving scientific research and upcoming clinical trials for Alkaptonuria (AKU), the rare genetic disease affecting my two sons. The funder was very helpful in explaining the different funding schemes and how to apply. But what made me thoroughly disappointed – even sad – was to find out that this major funder had no clear strategy for rare diseases, no dedicated funding streams for rare diseases, and no firm intention of doing anything more on rare diseases.' Read the rest here: http://tiny.cc/vw1jn
9) Easy Fundraising for AKU
We now have a page on Easy Fundraising. Anyone can raise funds for the AKU Society by registering at this link: http://www.
10) AKU logo for download
If you need to use the AKU Society logo for your fundraising and PR, download it from here: http://assets00.grou.ps/