We are glad to interview Olivier Menzel, the founder of the BLACKSWAN Foundation who also launched the RE(ACT) Community, and go together with him through last year actions and future objectives of the RAREvolution.
1) Dear Olivier, we are happy to relive together some of the most important actions of the RAREvolution. To get started, could you tell our readers something more about your professional experience?
I got passionate by human genetics and hereditary by chance at the age of 17 when I had to prepare a personal work on Gregor Mendel’s laws, the father of genetics. Then, I studied biology at the University with a specialization in genetics and molecular biology. When I started my career, my goal has always been to find treatments for genetic disorders because I felt very thankful to all patients and families with very severe conditions that decided to “share” with researchers their data in order to study human genetics and hereditary. For me it was the normal paying back to their generosity to science.
2) The RE(ACT) Community’s mission has been summarized in the claim: “We are the RAREvolutionary people. Stand up for Scientific Research”. What is the #RAREvolution?
The #RAREvolution remind us that time has come for rare disease research to evolve, to become a global research priority because the benefit of it is not only for people living with rare diseases, but, as often proven, for a larger population affected by more “common” diseases. Moreover, considering that the estimated number of people living with a rare disease is about half a billion globally, I estimate that policymakers and governments have to act, to react now because rare diseases fit perfectly in the United Nations Sustainable Development Goals and are fundamental to meet the 2030 Global Health Agenda. The impact of acting towards a better support for research and diagnosis will significantly impact the health system positively by covering many unmet medical needs.
3) The RE(ACT) crowdfunding campaign for “A Glimpse of Hope for FOXG1” has collected all the funds. In your opinion, what do you think has been the key to success?
The unconditional passion of a mom and the unacceptable fact that no cure exists! Only less that 5% of rare diseases have a treatment. To me, this is a serious infringement of human rights that nobody can accept. People living with a rare disease do not accept it, they are the true #RAREvolutionary, we want to offer them just the best tools to cure their loved ones!
4) The 4th edition of the RE(ACT) Congress 2018, the International Congress on Research of Rare and Orphan Diseases will be held at the Rizzoli Institute – Codivilla-Putti Research Institute in Bologna, Italy, from 7th to 10th March 2018. Could you give us a little preview?
I started the RE(ACT) Congress back in 2012, the idea was to create synergies between scientists with different skills. I realized, as a researcher, that while participating in conferences or meeting only with my peers, I was missing the approach to think “out of the box” and discover new technologies, approaches and know-how especially in rare disease research. I believe I was right, since in only 3 editions, more than 50 new collaborations between researchers working in different fields started after meeting each other at the RE(ACT) Congress. The next edition will host again extremely talented researchers working in stimulating and innovative fields. We have the honor as well to host outstanding researchers who dedicated their entire career to rare disease research, as Professor Harvey F. Lodish (Massachusetts Institute of Technology, MIT) and Professor Silvio Garattini (Istituto di Ricerche Farmacologiche Mario Negri).
5) It was a great year for the #RAREvolution. What are the plans for the future?
We are going to continue our work and start new discussions with policymakers to create awareness for rare disease research. We are also supporting the creation of a Center for therapeutic discovery focused on rare diseases that will be based in Geneva, Switzerland. The idea is to bridge the gap of the so-called “valley of death”, between the discovery of promising new compounds by academic researchers and the proof of their safety and efficacy in humans through industry-quality drug development support.
In parallel, we have as well to secure the continuity of our Foundation (BLACKSWAN Foundation) because is getting harder and harder to obtain support for our work. We can find financial support for scientific projects, but you have to consider that a minimum of skilled staff (and not only volunteers) is required to run all ongoing projects even if we keep administrative cost as lower as we can. So, we are looking for partners who are willing to support our work and to be part of the #RAREvolution.