The Power of Precision Medicine in Rare Disease

Panel discussion: The Role of Foundations in Precision Medicine

The field of rare diseases is expanding to the point of more than 10,000 sub-diseases. There is a lack of single drugs suitable for enough of these sub-diseases, which has made the drug discovery process less financially attractive and riskier for pharma. The challenge for precision medicine is to develop a global drug solution where there is a common denominator. Where are we at and how can the market move forward?

Amylynne Volker 
Founder Nicholas Volker One In A Billion Foundation

Peter Kapitein
President and Patient Advocate Inspire2Live
Amsterdam, Netherlands

​The Importance of Precision Medicines – Hurdles and Solutions

Precision medicine is already a success and nevertheless it might fail. We can learn from the past and should implement precision medicine not as just another way of treating patients but as another and new approach. In this new approach patients play an important role and are very motivated to do so. The biggest hurdle to take however is the medical industrial complex. Will this complex be prepared to innovate or will they simple stick to their old way of doing things?

Janet Allen
Director of Strategic Innovation at Cystic Fibrosis Trust
London, UK 

Precision Medicine for Cystic Fibrosis: Each Genotype Defines New Therapeutic Opportunities

In 2012, a new treatment (ivacaftor) was launched that has a transformational effect on people carrying a rare mutation, G551D. This represents only about 400 of the 10,800 people with cystic fibrosis in the UK. This discovery has improved enormously our understanding of the condition and the mutations that change the function of the protein. This has allowed the drug, ivacaftor, to be approved for use in a significant number of other mutations beyond G551D. Cystic fibrosis is therefore a condition where the nature of the genotype defines the therapeutic option for individuals and new drugs have changed the understanding of the condition.

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