Read the following interview to find out more about Drs. Alex MacKenzie's and Kym Boycott's #RAREvolution.
1) Welcome to the RE(ACT) Community Drs. Alex MacKenzie and Kym Boycott. You are clinician scientists at the Children’s Hospital of Eastern Ontario Research Institute in Canada and you also have other important assignments, can you please tell our readers more about yourselves?
Hi thanks for having us. One of us is an elderly occasionally befuddled pediatrician while the other is a clear thinking youthful clinical geneticist; we both work at the children’s hospital in the Canadian capital city of Ottawa. I look after patients on the wards and Kym sees families affected by neurogenetic disorders.
2) Your laboratory has conducted translational research on rare pediatric disorders and in recent years you have led the Care4Rare Canada project to search for genes and therapies for a larger number of rare diseases. Can you please tell us more about your research program and goals?
Kym has effectively persuaded genetic colleagues and rare disease families from across our large country to share their clinical information and DNA…she’s quite persuasive…so long story short, the two large scale projects she has run have analyzed 3,000 patients and family members to study 815 rare diseases providing a diagnosis for more than a 1,000 patients with the identification of 110 novel rare disease genes.
Treatment exists for only a small subset of the conditions so for my part, my laboratory has looked for novel therapies in a small number of these disorders…much harder! Genes normally make variable amounts of a material known as mRNA, which then makes protein; it is often a loss of protein that underlies a genetic disorder. Genes are also somewhat like dimmer switches, they can be turned on and off in terms of the amount of RNA and protein that they make by, among other triggers, drugs. So I have looked for clinically approved drugs that will turn genes off or on to treat rare diseases; we’ve looked at almost a hundred; five of these show some promise.
3) We are very honored that you are among the first signers of the #RAREvolution Petition. In a comment to the petition you said, “rare diseases in aggregate represent one of humanities greatest unmet medical and societal needs”. How important do you think it is to advocate and improve resources for research on rare diseases?
There has been a gratifying emerging focus on rare diseases over the past decade, aligning the resources available to the truly enormous scope of the medical and societal need. Nonetheless there are 1000’s of these very varied disorders all posing their unique challenges.. thus despite the progress made the need remains pressing. Plus on the ground…in the homes of those affected by rare diseases… that much may not have necessarily changed… at the higher levels there is change but work remains to drive these changes into the real world of those who live every day with these conditions.
4) Dr. MacKenzie you spoke at the RE(ACT) Congress in March 2016. How so these type of conferences help researchers in their work?
They are particularly important for rare disease..the community is so atomized given the profound heterogeneity of the conditions…there are just so many different possible connections. Thus getting groups like ourselves together can have a tremendous upside..in this case I heard a German researcher present a therapy that was being applied to a disorder that affects a very famous patient in Canada; I was able to pass this information on to his clinical team for therapy initiation. And a Spanish researcher presented a disorder related to one that we believe we have therapy for; we are now collaborating to see if our therapy may work for this condition. So two wins for me alone..multiply this by the number of attendees and one can see the net positive effect. Thanks to Blackswan for being such an enabler!
5) The online RE(ACT) Community encourages both researchers to publish scientific info and patients to share their personal health experiences. What do you think about health knowledge sharing to push research forward? Can digital media help this process?
Absolutely…in addition to traditional peer review publications, harnessing the vast rare disease community and to some extent crowd sourcing the aggregation of information will be key. There will naturally be issues with the quality control of the data and it will be an approach not suitable for all, but with thoughtful engagement of these impassioned and engaged families in the health research enterprise will be critical for success.
6) Can you please share with us three things you have learned from your personal and professional experiences that can help rare disease researchers and patients?
As a benchtop researcher I am focused on novel therapies for families…we often think that this is the be all and end all for the families..yet I am constantly struck when meeting with the families that while they welcome the idea of effective treatments, the true impact are the day to reality of their child..appropriate care, getting the right social support and the general feeling of being alone facing a medical system that doesn’t truly understand their child unique challenges and so on..we are researchers and will pursue our therapies but I think we must remain alive to the fact that this is only a piece and sometimes a small piece in the larger puzzle of rare diseases.
The success of my aspect of our research program is completely dependent on collaboration at a scale that is probably higher than in any other area of science. In this setting common goals, suppressible egos, personal connectivity, and a central focus on immediate patient and family impact are all necessary to collectively move such a research program effectively forward.
The other observation is the collective naiveté of most health care practitioners about a given rare disease and thus the need for a culture change where we as medical professionals recognize this more rapidly and engage with family RD communities who for all and intents and purposes rapidly become become content experts…fashioning a means by which the medical profession can listen and learn from affected families. We believe that this may currently represent a missed educational opportunity.