Rare disease day – think zebras
The 28th of February will see the 12th annual Rare Disease Day co-ordinated by Eurordis. This international initiative was launched in 2008 and is held on the last day of February each year. The objective of Rare Disease Day is to raise awareness about rare diseases amongst the general public, policy makers, public authorities, industry and research representatives and healthcare professionals.
What’s the link between zebras and rare diseases?
When you hear the sound of hooves, think horses, not zebras. This phrase is often used to teach medical students throughout their training. In medicine, the term “zebra” is used in reference to a rare disease or condition.
Sadly, rare disease patients are often mis-diagnosed and they are bounced from one medical professional to another until they receive their diagnosis. This process takes on average about 4-5 years. So, today, we beg you to think of zebras, 1/17 people across the world is a rare disease patient (zebra).
Why do we need a Rare Disease Day?
There are over 350 million people globally who are collectively affected by over 7,000 known rare diseases, therefore having a rare disease is not rare. However, because only 5% of these diseases have an approved treatment option, there are huge unmet medical needs in the rare disease community which most people are not aware of.
Rare Disease Day is a collaborative coming together of the RARE community to become a powerful, unified voice. Hundreds of patient organisations from around the world unite to host events, launch campaigns and raise awareness of the impact that rare disease has on their lives.
This year’s theme ‘Bridging Health and Social Care’ is focussed on bridging the gaps in co-ordination between medical, social and support services, highlighting the complex juggling and lack of support and services for those affected by rare disease. These challenges are highlighted in the Eurordis Rare Barometer Survey – the first Europe-wide survey carried out to assess ‘Juggling care and daily life’ for rare disease families.
Healx team taking part in rare disease campaign
Collaboration is the key
As a company, Healx is focussed on working together with patient groups to help them develop treatments for their rare diseases. Our mission statement “Every rare disease patient deserves a treatment” is a constant driver to forge the right collaborations to achieve this.
We understand that patients and patient groups are key to delivering successful treatments in the rare disease field as they hold deep expertise in their individual diseases. Healx forms strategic partnerships with patient groups and industry, and our artificial intelligence platform accelerates the drug discovery process, progressing projects from start to clinical trial within two years.
Healx’s patient group partnerships
Healx has a portfolio of ten drug discovery projects in partnership with patient groups. Working with these groups is essential to ensure our programmes are shaped to deliver treatments that target the aspects of rare diseases that matter most to patients.
Our collaborative partners include FRAXA Research Foundation (Fragile X) , aPODD Foundation (rare paediatric cancers), Pitt Hopkins Research Foundation , Barth Syndrome Foundation and Loulou Foundation (CDKL5).
Fragile X collaboration
Working with the FRAXA Research Foundation Healx combined their drug matching technology and expert pharmacological review to identify repurposed drugs that may have benefits for treating fragile X syndrome. Healx’s AI platform prioritised eight candidates, of which the top three candidates were selected for testing in mouse models. Remarkably, all three drugs tested had beneficial effects on fragile X behaviours in mice with the fragile X genetic mutation. The most promising candidate drug showed positive results in all four behavioural assays tested and is now progressing to Phase 2a trials later this year. The Healx/FRAXA collaboration has moved at considerable speed, progressing from starting the project to a Ph2a-ready candidate drug in only 18 months. Read more about it here
Healx and Rare Disease Day
This February, Healx has been raising awareness for Rare Disease Day 2019 through our social media RARE Facts campaign. We are steadfast in our commitment to patient group collaborations to accelerate the delivery of effective treatments to all rare disease patients.
If you are a patient organisation and would like to find out more about partnering with Healx, please contact firstname.lastname@example.org