A blog within a blog.
JJB's CSO (Chief Scientific Officer), Sean Ekins wrote a blog about his work with yours truly and my patient advocate friends Lori Sames and Alison Moore. He named his blog: "Rare disease heroes – Extraordinary collaborators we should be listening too." Sean helped my friends and I write a paper called: "Multifaceted roles of ultra rare and rare disease patients/parents in drug discovery."
YES, I'm going to be published! It will be in Drug Discovery Today, soon. The link to the reprint is below.
Once I accepted my new job in life and saw that I could actually be the driving force behind a treatment for Jonah and his friends. I wanted to share my experience with others and inspire them to take action to help bring about treatments for rare diseases. I know many people still think I'm crazy, that a treatment for Sanfilippo is just wishful thinking on my part. Well... that kind of thinking is more of a reflection on them then it is me. And I'll show you!
Sean's blog....
Sometimes you meet people that truly inspire you to do more,
question what you have been doing and rethink your goals in life. But when you
meet three of them in a short space of time you realize that something transformative
is happening. In the space of two years three non-scientists have overtaken all
my previous scientific role models. Having undergone a pretty classical scientific
education (undergraduate, PhD, post graduate, worked in R&D etc.) I was
perhaps, like many, under the illusion that we can make a difference alone. I had never met the actual patient or the
family member that needed science to find them a cure and do it fast. Then I
met Jill Wood, Lori Sames and Allison Moore all with several things in common.
Firstly they or their family are affected by a different rare disease. Second
they are proactive trying to find a treatment. Third they are entirely dependent
on collaborations to make progress. They are aiming high, in fact, so high that
their approach could herald a new wave in pharmaceutical research.
Each of them separately formed a rare disease foundation (Jonah’s Just Begun, Hannah’s Hope Fund and Hereditary Neuropathy Foundation), raised
money for research, networked with scientists around the globe and funded the
ideas they wanted to pursue in search of therapeutic treatments. Many other
parents or patients have taken similar steps to find a treatment or cure for a
rare disease. What sets these three apart is that none of them are scientists,
they have self-trained themselves through good old hard work, finding the right
experts, and are pursuing their goal by merging leadership, entrepreneurship
and the single-minded scientific vision of a principal investigator. Now there
is much to learn from this, they have no fancy technique or special formula,
they just surround themselves with the people who can make their ideas happen,
they listen and then do whatever is necessary to help the scientists succeed.
Their infectious drive was such that I wanted to help and having volunteered with
their foundations and start-up companies I realized earlier this year it was
time to tell their stories so far.
As with other recent examples, having the idea for a paper
and getting
it published are two entirely different things. We started out thinking it
would be a short paper for the rare disease focused journal called Orphanet, yet
we were rejected. It is unfortunate in some ways because Orphanet is an open
access journal and the paper would have been more accessible and giving parent
/ patient advocates a voice would have balanced their usual content. A far more
detailed manuscript was ultimately accepted in Drug Discovery Today and
a
preprint of the article is available.
Imagine the scenario that if every one of the approximately
7000 rare diseases had a Jill, Lori or Allison?
Far more could be done to further our understanding of each disease and
certainly they would encourage more collaboration that could help as each tries
to develop a treatment. While in the manuscript we note that biotech and
pharmas are looking to rare diseases as a potential commercial opportunity,
still there is the challenge for some of the “ultra-rare” diseases for which
there are very few patients. When one
looks closely at the achievements of Lori, Jill and Allison and their
collaborators, there are similarities with how some
venture capital companies are incubating new rare disease companies. The VCs of course have the benefit of tens of
millions of dollars to try an idea, which is not available to Allison, Lori or
Jill, and they have to raise the money their scientists need themselves. Perhaps
in spite of the small numbers of patients, the approach they each have pioneered
is certainly scaleable. If enough scientists can be encouraged to engage with
such rare disease champions and work on rare diseases either part-time or
full-time, then we will have more treatment options available. Other parents or
patients with rare diseases may be encouraged to follow their lead.
After the manuscript was accepted, I had been offered the opportunity to
officially consult for all three groups. And so begins a new phase. My goals
are to assist them in their science, communication of the projects they are
working on and efforts to partner and fund their work. I look forward to
documenting progress as it happens and learning from Jill, Allison and Lori as
they pursue treatments for Sanfilippo syndrome, Charcot-Marie-Tooth Disease and
Giant Axonal Neuropathy, respectively.
Sean and I at last years Partnering for Cures summit.
