Loading...
Welcome to the AKU Society Newsfeed. This page lists all the current news from the AKU Society. Brief summaries will appear on the homepage, in the "Latest News" box, and full stories appear here. We've got Oliver writing the AKU news, and links to Nick's blog posts on the role of a patient organisation in treating rare diseases.
Apr 05
1. AKU Society launches new website:
We're thrilled to announce our new website. It brings together all the latest in social media, blogging, scientific papers, information for patients, and much more. Check it out: http://www.alkaptonuria.info.

2. AKU Society North America officially registered:
We received confirmation yesterday that the new AKU Society North America (covering the USA and Canada) is now formally registered as a 501c3 charity. The board includes five AKU patients and two parents of AKU patients. We'll be meeting up with some of the board members next week in Washington to hammer out our plans for the future.

3. AKU at Slovakia's National Congress for Rheumatology:
AKU is rising up the agenda in Slovakia, the country with the most number of known AKU patients in the world. Last week we presented to their national congress of rheumatologists, visited their new National Centre for Alkaptonuria and Ochronosis and met AKU patients. We're now starting to plan a study for a potential treatment with their growing team of AKU scientists and clinicians, building on the pioneering work on AKU carried out in Slovakia since 1951. We're also going to set up an AKU Society Slovakia. Read about the visit here: http://akurarediseaseguide.wordpress.com/2011/04/01/the-slovakian-connection/.

4. AKU at the Wellcome Trust conference on the Genomics of Rare Diseases:
Dr Jonathan Jarvis from the University of Liverpool and Dr Ludevit Kadasi from the Slovak Academy of Sciences presented posters on AKU at the prestigious Wellcome Trust conference in March in Cambridge on the Genomics of Rare Diseases. We're pleased to see that rare disease are moving up the agenda among mainstream science, and that AKU is seen as a crucial part of this. 

5. Italian AKU Society launches its new website:
AIMAKU, the new AKU Society in Italy, has just launched a fabulous new website: http://www.aimaku.it/.

6. Run the London 10k in July and raise funds for the AKU Society
Following the success of our participation in the British Military Fitness 10k two weeks ago, we've got places for the London 10k run on July 10: http://www.thebritish10klondon.co.uk/. So please get in touch, start training, and raise funds for AKU.

7. Rosetrees Trust supports our AKU scientific research:
The Rosetrees Trust, which supports medical research, has provided us with a grant towards our basic science research programme in Liverpool. This is excellent news and provides confirmation, once again, of the strength and credibility of our science team, particularly since the Rosetrees Trust focuses on cutting edge projects: http://www.rosetreestrust.co.uk/.

8. AKU Society at the World Orphan Drug Congress in Washington DC:
We've been invited to speak at the World Orphan Drug Congress in Washington next week to an audience of senior executives from industry focusing on rare diseases. We will be sharing a panel with key speakers from the Canadian Organisation for Rare Diseases (CORD) and the US National Organisation of Rare Disorders (NORD) and others to discuss patient partnerships for finding treatments: http://www.terrapinn.com/2011/orphandrugusa/.

9. Meet the team: Prof Jim Gallagher, Scientific Director of the AKU Society
In this issue, we introduce Professor Jim Gallagher, who holds the Derby Chair of Anatomy and Cell Biology at the University of Liverpool. Jim is the leader of the AKU Scientific Project and is recognised as a world expert in this field. We're incredibly fortunate to have him on board. 

Jim obtained his BSc from the University of Newcastle on Tyne and MSc from the University of Aberdeen, followed by a PhD from the University of Cambridge where he investigated the metabolism of vitamin D, under the supervision of Eric Lawson. He then undertook postdoctoral research in Herbie Fleisch's lab in Bern working on bisphosphonates.  He returned to England to work in Graham Russell's lab in Sheffield where along with Jon Beresford, he developed the first techniques to culture cells expressing an osteoblastic phenotype from human bone. In 1984 he was appointed to a lectureship in Mineralised Tissue Biology at University College London and moved to the University of Liverpool in 1986. He has undertaken short sabbaticals at the University of Melbourne with Jack Martin working on PTHrP and Ciba-Geigy, Basle, with Graeme Bilbe on gene expression in bone. His work is focused on elucidating the basic mechanisms underlying human bone and joint disease. 

Over the past few years, his laboratory has been the international leader in research on the role of extracellular nucleotides and P2 receptors in bone and skin homeostasis. He is a member of the ATPbone EUFP7 consortium and the co-ordinator of FindAKUre, a Europe-wide collaboration to develop new therapeutic strategies for Alkaptonuria. In our humble opinion, Jim is a hero of the AKU movement who has led significant break-throughs in our understanding of the disease.

10. AKU Society supports Patients Know Best:
We met a few weeks ago with an impressive social entrepreneur who is developing a new product that could interest AKU patients. He's called 
Dr Mohammad Al-Ubaydli, has a rare condition himself, and runs Patients Know Best. Here's what he says:

'Do you receive care from doctors and nurses from different hospitals, clinics and GP surgeries? Do you find yourself having to call multiple people to find out about your results and to ensure that your medications are changed accordingly? Are you unsure about the exact plan for your care after a clinician calls you or speaks to you in clinic? 

'If you answered "yes" to any of these questions, then Patients Know Best may be for you. The website, used by Great Ormond Street Hospitals, UCL Hospital and Imperial College Hospital, allows each patient to invite all of the doctors, nurses, pharmacists, social workers and other carers who help with their health, both inside and outside the NHS. The patient can then send and receives messages with each of the people they invited to access their full test results and co-ordinate their care. Clinicians can send their plan in writing to the patient so the patient knows exactly what is to be done, and can then explain it to their other clinicians. 

'Patients Know Best has been featured in the Guardian, and in Wired magazine because of its benefits to patient care.
 A personal account costs £100 per year, and you can use it with everyone in your clinical team. To start using the system, visit www.patientsknowbest.com.' 

11. International AKU Day:
We're thinking of launching an International AKU Day some point soon. Watch this space...

So that's it for this month. Hope you enjoyed reading this, and do get in touch if you'd like to be part of this exciting movement for AKU. In the meantime, you can read my daily blog at: http://akurarediseaseguide.wordpress.com/. 

And if you'd like to donate to my Military Run for AKU, the webpage is still open at: http://www.justgiving.com/nicolas-sireau.

May 09
1. Scientific meeting on AKU in Cardiff:
The AKU Society is delighted to announce a meeting to discuss Alkaptonuria on 29 June 2011 in Cardiff. It will be chaired by Prof James Leonard, Emeritus Professor of Metabolic Disease at the Institute of Child Health in London. This meeting will be held immediately before the Annual Symposium of the British Inherited Metabolic Disease Group (BIMDG), and will be jointly sponsored by Swedish Orphan Biovitrum Ltd and the AKU Society.
 
The meeting will be a scientific one, with an introduction from our research team in Liverpool on the biochemistry and pathophysiology of AKU, a report from the NIH on a clinical study of AKU patients, and a clinical view from our Medical Director, Dr L Ranganath.
 
The meeting is aimed mainly at clinicians with an interest in metabolic disease, as well as the wider AKU community of doctors and patients. If you would like more information, or wish to book a place, please contact us at info@akusociety.org or go to http://www.alkaptonuria.info/498094. 

2. Mini-symposium on AKU and Osteoarthritis in Liverpool
On Friday 20 May 2011, there will be a mini-symposium at the University of Liverpool Medical School on AKU and Osteoarthritis.  

We're particularly excited as the University of Liverpool has secured a great guest speaker, Prof Viriginia Kraus, who is president of OARSI (Osteoarthritis Research Society International). Speaks will be talking about the connections between AKU and osteoarthritis, an important area for future work on AKU. You can find out more here: http://www.alkaptonuria.info/515392/. Or book to attend by emailing info@akusociety.org. 

3. French ALCAP secures funding from Fondation Groupama
Yet more good news: our French sister organisation, ALCAP, has just secured a small grant from the Fondation Groupama, which supports rare disease groups. This funding will be used to organise a scientific meeting in France to accelerate the development of our French AKU Reference Centre and plans for clinical care and research.

4. We produce a report on the average cost of an AKU patient
Michael Craig, a chartered accountant who has worked at a large international consultancy firm for the past six years, has just finished a study for us on the average cost of an AKU patient to the NHS. This is important as it will help us convince the NHS of the need for specialist help for AKU patients. 
Here are his key findings:
- Individual patient costs vary greatly depending on the stage of the disease they are in and the resulting number of surgeries and patient care required. Direct costs from one patient for one year can be in excess of £90,000 without taking into account drug therapy and physical aids required to live as normal a life as possible.  These additional costs bring the single possible direct patient total to over £100,000, and possibly even larger given the limit to which direct costs were captured for each patient. 
- A conservative approximation of the total costs of AKU in the UK including indirect costs (i.e. lost wage and production) is approximately £1.4 million to £2.0 million per year with the upper limit possibly being as high as £7.0 million, for 80 known patients. 
Much of this cost is due to poorly coordinated care, lack of access to treatment, doctors who don't know the condition, and errors with diagnosis – hence why specialised care in a specialist centre is so much more effective.

5. AKU Specialist in Jordan wins award to spend time with Liverpool team
The Academy of Medical Sciences has just awarded a Daniel Turnberg Travel Fellowship to Dr Mohammed Alsbou, Clinical Pharmacologist and Assistant Professor at the Department of Pharmacology at Mutah University in Jordan. This is excellent news.

Mohammed will be spending time with the Liverpool team to find out more about the AKU work there. Mohammed is the founder of the AKU Research Centre in Jordan and last year identified 40 AKU patients in a single village.

6. AKU Society presents at World Orphan Drug Congress 
Our Chairman, Nick Sireau spoke at the World Orphan Drug Congress in Washington in April, as part of a panel discussing issues relating to industry-patient partnerships. If you’d like to find out more, read Nick's blog at http://akurarediseaseguide.wordpress.com/2011/04/16/back-home/, where he writes about meeting with the US-based Genetic Alliance and the National Institutes of Health to update them on AKU progress and find out about their work.

7. New paper published on AKU cardiovascular issues
A new paper on ‘Cardiovascular Manifestations of Alkaptonuria’, by Pettit, Fisher, Gallagher and Ranganath has just been published by the Journal of Inherited Metabolic Disorders. Here’s the abstract:

The cardiovascular manifestations of alkaptonuria relate to deposition of ochronotic pigment within heart valves, endocardium, aortic intima and coronary arteries. We assessed 16 individuals with alkaptonuria for cardiovascular disease, including full electrocardiographic and echocardiographic assessment. The self reported prevalence of valvular heart disease and coronary artery disease was low. There was a significant burden of previously undiagnosed aortic valve disease, reaching a prevalence of over 40% by the fifth decade of life. The aortic valve disease was found to increase in both prevalence and severity with advancing age. In contrast to previous reports, we did not find a significant burden of mitral valve disease or coronary artery disease. These findings are important for the clinical follow-up of patients with alkaptonuria and suggest a role for echocardiographic surveillance of patients above 40 years old. Go to: http://www.ncbi.nlm.nih.gov/pubmed/21506017. 

8. London 10k – a few places left to raise funds for AKU
We’ve got a few places for the London 10k run on July 10: http://www.thebritish10klondon.co.uk/. So please get in touch, start training, and raise funds for AKU.

9. Meet the team: Dr Jonathan Jarvis
Jonathan is on the leadership team of the AKU Research Group in Liverpool. He studied Physics and Physiology at the University of London, and completed his doctorate on activation of muscle in Duchenne muscular dystrophy at Imperial College. He has worked on the response of muscle to training for his postgraduate career. He is now Reader in Musculoskeletal Sciences in the Institute of Ageing and Chronic Disease at the University of Liverpool. Jonathan has overall responsibility for the mouse models of AKU. He has considerable experience of the statutory framework regulating this type of work in the UK, and the need for careful consideration of husbandry and welfare.

He has developed new techniques of exercising muscles in rodents, using miniature muscle pacemakers. These are being used to find out whether the pigment deposition seen in AKU may be related to mechanical stress, that is, loading and unloading of joints, muscles, tendons and bones. This will help us to understand the triggers for pigment deposition in AKU: in turn, this may allow us to devise strategies to interfere with or to prevent pigment deposition, and to give sound advice concerning lifestyle with AKU.

We’re delighted that Jonathan’s working with us on AKU. He brings a depth of experience and solid skills that are crucial for our quest for a cure.

10. Patient testimony
As many of you know, we are working on a treatment for AKU called Nitisinone. It’s not currently licensed for use in AKU, although our research shows that it is promising. Here’s the story kindly sent to us by an AKU patient who is being treated with Nitisinone:

‘I am 39 years old and have AKU. I have been taking Nitisinone for a year in April, 2011. I did not have many symptoms of AKU before starting Nitisinone. I just have had the classic dark urine as a child, and since my mid-twenties, the blue- tinted ears and grey streaks in my sclera, and occasional back pain. I started my prescription of 2 mg Nitisinone daily to keep the symptoms of AKU at bay. 

‘The most beneficial aspect of taking Nitisinone for me is to slow down the rate at which the HGA is accumulating. To know that I am actively doing something to slow the rate of HGA deposit down, rather than to keep up with the symptoms after they happen with surgeries, pain medication, etc., is huge. I can’t imagine being a sitting duck with this disease. My back pain has diminished greatly, as well, I believe due to taking Nitisinone.

‘How much pain or complications would I have without being on Nitisinone for this last year? I am not sure, and I do not want to find out. I hope I started taking it in time, and I feel very lucky and blessed I have the opportunity to be on it. I have had no adverse side effects from taking Nitisinone. I feel great and want to continue feeling great as long as I can. With Nitisinone this may be possible.’

11. Ashoka video interview:
Last year, Nick Sireau was elected a fellow of Ashoka, the network of social entrepreneurs (http://www.ashoka.org/). Ashoka is a global community that supports these social entrepreneurs: people who are working hard to find lasting solutions to major social problems. As part of an induction ceremony earlier this year, he was interviewed for a short video. You can watch it here: http://vimeo.com/21971024. 

12. New AKU brochure now available for download:
The latest version of our full-colour, 16 page brochure about AKU is now available for download for free. Just go to: http://bit.ly/ipdRiI. Please do circulate this widely.

13. Please donate:
Please remember that we’re always looking for funding to support our patient work and our research for cures. If you’d like to donate online, please go to http://www.justgiving.com/alkaptonuria. 

Jul 05

AKU meeting in Cardiff is a huge success

More than 70 metabolic consultants, scientists, patients, NHS staff and industry representatives attended the AKU meeting held in Cardiff last week, sponsored by the AKU Society and Swedish Orphan Biovitrum Ltd. That was just about a 100% turn-out, which is fantastic.

 

We discussed the pathophysiology of AKU, the growth of the AKU patient movement, the clinical assessment of AKU, and the results of the recent NIH trial into a treatment. To find out more, read my blog: http://akurarediseaseguide.wordpress.com/2011/07/01/a-successful-aku-meeting-in-cardiff/.

 

 

We form partnership to develop enzyme replacement therapy

We’ve launched a partnership with Protein Technologies Ltd, a bio-tech start-up, to develop a model of enzyme replacement therapy for AKU.

 

In the first of a series of studies, Protein Technologies Ltd will be producing a range of recombinant mutants of homogentisate 1,2-dioxygenase (HGD  - the deficient enzyme in AKU) and test them in vitro and in vivo in mice models for their effects on homogentisic acid (the damaging substance in AKU). Using site-directed mutagenesis techniques and its proprietary unnatural protein technology, Protein Technologies Ltd will seek to prove that a recombinant HGD can be synthesized which is more active and more stable than the naturally occurring enzyme.

This work will be in close collaboration with our scientific team at the University of Liverpool. We’re extremely excited about this project. If successful, it will open up a new avenue of potential treatment for AKU.

 

For more about Protein Technologies Ltd, read this article entitled “Project ‘could be as revolutionary as silicon chip’”: http://menmedia.co.uk/manchestereveningnews/news/business/s/1408919_project_could_be_as_revolutionary_as_silicon_chip.

 

 

Dates for 5th International Workshop on AKU announced

Our next workshop, following on from the successful one in Cambridge, will again unite the AKU research teams with our patient support, to present two days of scientific advancements in the treatment and understanding of AKU. It will be held at the Liverpool Medical Institute on Friday 18 and Saturday 19 November 2011.

 

More details soon, but if you'd like more information, please contact booking@akusociety.org.

Registration will open in September, so keep those November dates free.

 

 

World-class scientists join advisory board of AKU Society North America

We're delighted that Prof Virginia Kraus and Dr Wendy Introne have joined as advisors of the AKU Society North America.

 

Virginia Byers Kraus is Professor of Medicine at Duke University and a practicing rheumatologist with 20 years experience in osteoarthritis research. She supervises a laboratory devoted to translational research to advance the understanding of the pathogenesis of osteoarthritis and to contribute to therapies for the disease. She is President Elect and Executive Committee member of Osteoarthritis Research Society International (http://www.oarsi.org/) to promote global research toward the prevention and treatment of osteoarthritis.

 

Wendy Introne Is a pediatrician, clinical and biochemical geneticist who performs clinical research on rare genetic conditions at the National Human Genome Research Institute, National Institutes of Health in Bethesda, USA. Dr Introne’s interest in Alkaptonuria began in 2000 when she initiated a protocol to elucidate and document the natural history of the condition. Through this protocol she has evaluated approximately 100 patients with Alkaptonuria. This natural history protocol led to a treatment trial investigating the use of Nitisinone in patients with Alkaptonuria.

 

 

AKU runners prepare for the London 10k

Our volunteer runners are training hard for the London 10k this Sunday. Please support them with a donation for AKU! If you’d like to sponsor them, click on the links below:

 

Colin Cattermole: http://www.justgiving.com/colin-cattermole

Anna Wells: http://www.justgiving.com/AnnaforAKU

Alex Ridley: http://www.justgiving.com/alex-ridley

Andrew Preston: http://www.justgiving.com/andrew-preston1

Rosie Garbutt: http://www.justgiving.com/Rosie-Garbutt

Matthew Phypers: http://www.justgiving.com/Matthew-Phypers

 

Rosie and her family are also cycling to Land’s End to raise money for AKU. You can donate here: http://www.justgiving.com/Ian-Garbutt.

 

 

Summer school on clinical trials for rare diseases

We participated in a fantastic summer school on clinical trials for rare diseases organised in Barcelona by the European Organisation for Rare Diseases (Eurordis). Read about it on my blog: http://akurarediseaseguide.wordpress.com/2011/06/17/why-patient-groups-should-attend-the-eurordis-summer-school/.

 

 

Genetic Alliance video on the self-management of AKU

AKU patient Robert McIver from Scotland shares his story of managing AKU:
www.geneticalliance.org.uk/self-management-alkaptonuria.htm

 

AKU Society presents case study at the Eurordis online communities seminar

The AKU Society presented its case study of using social media at the one-day seminar organised by the European Organisation for Rare Diseases (Eurordis) in Amsterdam. Watch the video here: http://www.youtube.com/eurordis#p/u/11/e68nzA9Oi5k.

 

 

What AKU patients need to know about Nitisinone

Dr Duncan Batty, AKU patient, AKU volunteer, and former pharma industry researcher with a PhD in biochemistry, has put together a document designed to give AKU patients his

viewpoint on what Nitisinone is, why it is a possible treatment for AKU and what is

known about its long term effectis. Download it here:

http://assets00.grou.ps/0F2E3C/wysiwyg_files/FilesModule/findakure/20110622060207-pxckqnpuueogezmaq/Taking_Nitisinone_-_Patients_information_-_Dr_Duncan_Batty.pdf

 

 

AKU scientific papers

The book ‘Inborn Errors of Metabolism’, by Sir Archibald Garrod, the scientist who identified AKU more than 100 years ago, can be downloaded for free from: http://www.esp.org/books/garrod/inborn-errors/facsimile/title3.html.

 

The chapters on AKU can be downloaded as PDFs from:

http://www.esp.org/books/garrod/inborn-errors/facsimile/contents/garrod-inborn-ch-04-i.pdf

http://www.esp.org/books/garrod/inborn-errors/facsimile/contents/garrod-inborn-ch-05-i.pdf

 

The AKU science groups have been particularly prolific, with a number of new papers published:

 

‘An update on molecular genetics of Alkaptonuria (AKU)’, by Andrea Zatkova (Slovakia AKU Research Group), has just been published in the Journal of Inherited Metabolic Disorders: http://www.springerlink.com/content/j2l2411551277531/

 

‘Pharmacological and toxicological considerations of homogentisic acid in Alkaptonuria’, by

D.P. Williams, Amy Lawrence and Xiaoli Meng (Liverpool AKU Research Group), has just been published in Pharmacologica and can be downloaded in full for free at: http://pharmacologia.co.uk/abstract.php?doi=pharmacologia.2012.61.74.

 

‘Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria’, by Taylor et al (Liverpool group) has just been published in the Journal of Clinical Pathology:

http://www.ncbi.nlm.nih.gov/pubmed/21551467

 

The Indian Journal of Dermatology just published a case study on AKU. The full paper can be downloaded for free here: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108520/?tool=pubmed

 

 

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.easyfundraising.org.uk/causes/aku and then a percentage of their online shopping goes to the AKU Society.

 

 

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/0F2E3C/wysiwyg_files/FilesModule/findakure/20110518040738-pxckqnpuueogezmaq/AKU_LOGO.jpg.


Remember that if you want to join the mailing list, and get the e-news delivered direct to your e-mail every month, please go to this link.

Sep 13

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-Garbutt. So please dig deep.

 


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.org/action-shot-photo-competition/gallery/page-3

 

 

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.easyfundraising.org.uk/causes/aku and then a percentage of their online shopping goes to the AKU Society.

 

 

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/0F2E3C/wysiwyg_files/FilesModule/findakure/20110518040738-pxckqnpuueogezmaq/AKU_LOGO.jpg.



Remember that if you want to join the mailing list, and get the e-news delivered direct to your e-mail every month, please go to this link.
If you liked the work we are doing here, why don't you donate to help us continue, and remember to check back regularly for updates.