Rare Disease Day 2017

Posted by Paddy Wall on Mar 7, 2017 2:15:04 PM
Rare Disease Day raises awareness and reinvigorates efforts of healthcare and government to help those living around the world who are suffering from one of the 6,000 to 8,000 known rare diseases. A ‘rare disease’ is defined in Europe as a life-threatening or chronically debilitating disease that affects no more than 5 people per 10,000.
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 This year’s All-Ireland event took place in Dublin on the 28th February. There, patient groups, industry representatives, researchers, and policymakers gathered for a passionate discussion on orphan drugs, genomics and rare disease plans throughout Ireland. Unlike the popular media who largely focused on ultra-rare diseases, speakers at the Dublin conference highlighted the excess of 30 million Europeans who are living with rare diseases.


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Speakers highlighted existing challenges such as funding and impediments to collaboration, including Brexit. While there certainly are challenges, there is a lot of work ongoing and contributors did not neglect to highlight the many opportunities that exist. Prof. Eileen Treacy spoke of the startling reality that exists whereby 70% of GPs do not know how to find information on rare diseases. However the provision of resources and learning modules to better inform and prepare those seeing patients on a regular basis will address this challenge.

Extensive Listing of Online Resources for Healthcare

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Exponents of non-drug research also spoke about how new information on lifestyle changes and other interventions can dramatically alter the patient-experience. Dr. Sean Ennis highlighted research, which influenced a small change in diet to get disproportionate quality of life improvement and Prof. Gerry McElvaney referred to Alpha-1 research which showed that smokers with PiMZ were five times more likely to develop COPD than their non-smoking counterparts, prompting a targeted detection program.

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The theme of teams was prevalent throughout the day and all speakers advocated for the need for international collaboration to improve the options available to people with rare diseases. Indeed, Mark Pollock opened the meeting by asking the question "How do we organize a disparate group around a common goal?" Prof. Treacy referenced GalNet - The Galactosemia Network as an example of groups coming together to work toward new clinical guidance and new therapies.

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There was strong debate over the provision of orphan drugs to patients on national schemes. Patient groups made powerful and emotive arguments for the extraordinary benefits that these innovative drugs make to a patient's quality of life. In turn, Prof. Michael Barry of the National Centre for Pharmacoeconomics presented reimbursement recomendations on the grounds of cost effectiveness and opportunity cost. One representative of the patient group 22q11 emphasized the futility of asking for more money from cash strapped national healthcare systems:

"If you're just asking for more money, you're on a hiding to nothing. Make the cost saving argument to say that people treated early and appropriately will ultimately save money. "

Pharmaceutical R&D and clinical development have already begun the process of including the quality of life procedures that are necessary to make the value for money argument. However, this will, unfortunately, add to the ever increasing complexity of protocols and burden on clinical trial participants.

The challenges in this sector are indeed great, but not insurmountable. "History is full of stories of those that make the impossible possible. When I went to the South Pole, I went as an adventurer. But as a patient in translational medicine, my journey is as an explorer." Mark Pollock - Explorer

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