This year the AKU Society Team had a fantastic time celebrating Rare Disease Day at various different events. In this week’s blog we give a summary of these events, and their Rare Disease Day messages.

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Parliamentary Reception

On Wednesday 25th February, Oliver and Nick attended Rare Disease UK’s parliamentary reception for Rare Disease Day. It’s an annual event, highlighting Rare Disease UK’s work in lobbying for rare diseases. Alastair Kent, Chair of Rare Disease UK, introduced the day’s three speakers, explaining the role they play to ensure rare diseases are a priority for the government. First to speak was Liz Kendall, Shadow Minister for Care and Older People, who has worked with rare disease since the 90s.


Next was Earl Howe, the Parliamentary Under-Secretary of State for Health. He has taken the lead for rare diseases, implementing the UK Strategy for Rare Diseases he launched two years ago. One of the most exciting projects he’s involved with is the 100,000 Genomes Project; which aims to sequence the genetic code for thousands of rare disease patients, helping us understand more about them in order to improve diagnosis.

Last to speak was Fiona Marley, Head of Specialised Services for NHS England. Specialised Services is the body which commissions the National AKU Centre (NAC), so we were pleased to hear her commitment to the continued provision of these services in the future.

After a brilliant Networking session, the event closed with two excellent videos highlighting rare disease day: one from Eurordis and another from Health Education England.

Findacure Scientific Conference

On Friday 27th February, Eve and Oliver attended the Findacure Scientific conference on drug repositioning for fundamental diseases. Drug repositioning is the technique of finding a drug already licensed to treat a disease, and using it to treat a different disease. This technique is a promising one when looking for new treatments for rare diseases.

Our very own Nick Sireau, cofounder of Findacure, opened the conference by speaking about the repositioning of nitisinone for use in alkaptonuria. This drug was originally a weedkiller, but was soon identified as a treatment for hereditary tyrosinemia type 1. It is now the focus of our international clinical trial as a treatment for AKU.P1040106

Next to speak was Dr Bruce Bloom from Cures Within Reach. His talk highlighted the potential of drug repositioning to speed up drug development for rare diseases. Prof Michael Biggs of Newcastle University spoke next on the science behind drug repositioning. He focused on the importance of understanding the mechanisms of a disease first, in order to identify a potentially suitable drug.


The final speaker was Dr Farid Khan from Protein Technologies, who stressed that almost all the pathways in the human body have an existing effective and safe drugs. These could potentially hold the solution for hundreds of untreated conditions.

Royal Holloway

On the same day, Lesley and Sorsha headed to Royal Holloway University in London to present a stall at the rare disease day exhibition. School, college and university students attended the day to learn about genetics and rare diseases during a day of lectures, workshops, and exhibitions.

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We very much enjoyed speaking to people of all ages, from students, to teachers and healthcare professionals. We explained the genetics of AKU, underlining its rarity, and describing the progression of the severe symptoms patients develop. Whilst speaking about our international clinical trials, we also took the chance to explain the new research we are fundraising for with our ongoing Indiegogo Campaign.


We also took the opportunity to launch our new elearning module, which we have created in partnership with the Royal College of General Practitioners (RCGP). We had a huge amount of interest in this module, as it is the first module RCGP have created focusing on a rare disease. The aim is to improve diagnosis and quality of care by improving the knowledge of GPs.


Although it is aimed at GPs, the module is free and open access, and we encourage anyone to use it to learn about AKU. Perhaps some of the students who took interest in the module will become the GPs and healthcare professionals of the future!

Did you do anything for Rare Disease Day? If you did, we would like to know! Share your stories and photos with us by emailing [email protected]