#RARETalk: meet Heather Etchevers )

We are glad to have back with us Heather Etchevers as a guest of our monthly #RARETalk. Read the following interview to discover more about the experience of a #RAREvolutionary researcher.  

1) Hi Heather, welcome! We are so glad to have you as a guest of our #RARETalk. Can you tell us something about you? What are you working on?

Thank you for inviting me! I am a developmental biologist by training and by predilection. About sixteen years ago, I became interested in the genetic bases underlying congenital malformations. I began to study genes involved in tissue formation, particularly a kind of stem cell present in all vertebrate embryos, called neural crest. One of the derivatives of neural crest cells is the pigment cell of the skin. My group studies why mutations in genes encoding proteins that normally work together to convey information within most cell types, specifically cause cancers and rare diseases when they occur in neural crest cells.

2) Two years ago, you have started a collaboration with the RE(ACT) Community submitting a project on Congenital Melanocytic Nevus syndrome that was supported by more than 81 backers, achieving a great success. Can you describe this experience for our readers? 

I am an optimist by nature, but the snowball effect of our early pushes to raise these funds for a basic research resource greatly exceeded my hopes. Despite it not being good psychology for project fundraising to post an extremely ambitious goal, I think that being transparent as far as the actual costs of a project, and knowing that there are useful things toward the ultimate goal to do with intermediate levels of funding, were appreciated by our donors.

The actual implementation of the crowdfunding was much more time-consuming than I expected, simply because I did not know exactly what to expect. I am also a perfectionist, and I had to learn to live with good enough! I will not attain a level of professionalism in wielding html language for the updates without actually collaborating with a professional. This is why, at the RE(ACT) Congress last March, I recommended a few tips for aspiring scientific crowdfunders, the most important of which is to not try to go it alone! Another was to acquire some ease with some of that social networking experience though scientific blogging, or regular interactions on Twitter and/or Instagram, or to partner with someone who has it.

3) The RE(ACT) Community encourages both researchers to publish scientific info and patients to share their personal experiences. What do you think about the importance of health knowledge sharing to push the research? Can digital media help this process? 

Social media and the specific tools that the RE(ACT) Community has made available can definitely help in the exchange of information that can be of benefit to both researchers and patients. Most scientists who are not also physicians, do not know patients personally unless they collaborate with physicians who receive them. Most patient advocates do not know scientists unless they have been somehow involved in a research project or in enabling funding for one, or their advocacy group invites scientists as speakers to their conferences. However, establishing trust and a common vocabulary are not small matters. I do not think that the RE(ACT) Community has yet reached its full maturity in this regard, but there is a lot of potential if the right, passionate people can get involved.

4) The BLACKSWAN Foundation has launched the petition ‘#RAREvolution: Stand up for the scientific research on rare diseases’ to call upon public authorities to realize programs and concrete actions to support research. In your opinion, why the scientific research about rare and orphan disease has to face so many obstacles? How relevant is the process of crowdfunding to unlock this situation?

Scientific research about rare diseases has to overcome not only communication obstacles linked to the difficulty of making the scientific approach interesting and palatable to the general public, but also those linked to the “competition” with more common medical conditions. From a taxpayer’s or legislator’s point of view, money invested in research to improve the quality of life or care for a more common condition, or a better-known rare condition, will better benefit public health. Unfortunately, there are still too few examples of what we in the rare disease community know – what is learned about how most rare diseases arise or can be treated can be applicable to many other conditions. You get more bang for your buck, as we say in the United States, from where I hail originally.

There many thousands of rare diseases out there, the causes of most of which are not known. In addition, although it has become easier over time, there are certain subjects that are more taboo than others in general society – seeing children in particular suffer is something that none of us can bear in more than small doses. Parents who have to confront such situations every day can attest to being shunned by those who are not obliged to live with them also, and making stronger and better friends among those who do, or who are willing to empathize.

Crowdfunding is a newer way to both communicate about the reality that each rare disease represents for the affected patient, family and friends, but also about the hope that there are things to do to progress in their care. Sometimes that progress needs to start at the beginning, with building good resources like we have been doing, for future research. Sometimes that progress is bringing rare disease patients from all over the world for a clinical trial in a few choice locations, for efficiency and monitoring. Crowdfunding allows individuals to become actors, instead of feeling like there is nothing they can do anyhow in a situation that might initially appear hopeless, and to apply their money to something tangible and concrete.

5) Do you have some suggestion for us? How can the RE(ACT) Community better reach its goal to create a stronger human network able to spread the voice about the urgency of investing in rare and orphan disease research?

I can only suggest to continue to recruit passionate and devoted people to continue the great work that the RE(ACT) Community has started over the years, and to take encouragement from other organizations who have reached their stride. I am privileged to know many researchers who are fully committed to their work on rare diseases, and believe that person-to-person communication is a good start, but needs to be combined with some old-school marketing to gain enough momentum and attention that people will continue to devote their time to this particularly original approach. RE(ACT) Community needs to continue to emphasize what it can provide that is unique, to the people whom it needs to attract – both on the patient side and on the researcher side.