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I started my research about 25 years ago when I studied RNA splicing as a mechanism that
contributes to control of gene expression and soon after I realised that I can manipulate
it using small fragments of nucleic acids like RNA and DNA which we called oligonucleotides
and that by targeting oligonucleotides to elements that are important for splicing I can manipulate
this process with consequences that are clinically applicable. The first disease that I worked
on was Thalassemia a genetic disease of blood disease and later on muscular dystrophy and
that's because we've found compounds that were in fact taken up by the muscles much
more efficiently than other cells.
So in the particular case of genetic diseases the role of patients is very important for
several reasons. One is that in fact the numbers of patients are very small and therefore in
order to any kind of trial or any kind of research when it comes to the point where
you can test your drugs on patients it's important for the researchers and the companies to be
able to find the patients and anything that the parent's organisations or the patients
organisations can do to facilitate it would obviously at the end benefit the patients
and facilitate our work. The second role that the patients can play is in fact support financially,
if they can, especially early steps of the research because usually the investors and big pharmaceutical companies
are not interested in supporting early stages of the research especially in the diseases
where the numbers of patients is small and therefore the payoffs at the end are also
not tremendous.
So another way for parents and patient organisations to help in the process of progressing from
research to bringing the drugs on the market is to participate in the design of the trials
which are required by FDA in the United States and by EMA in Europe. Both agencies and rightly
so require you know double-blind placebo trials and those require large numbers of patients.
Now in cases of rare diseases which by definition are rare and therefore there's very small
number of patients available or affected it's almost impossible to design trials that way
so there's a process going on now and I would certainly encourage all parents and patients
organisations to participate in this process how to better design trials that would allow
drugs that are only targetted at a small number of people on the market and somehow to deal
with the issue of large trials that are regularly required.
At the beginning of my career as I mentioned I worked on Thalassemia and I was invited
to a conference on Thalassemia organised by the Thalassaemia International Federation
and there for the first time I met young patients with Thalassemia who after
listening to talk and at that time it was the very early steps of my research we were
still working in vitro in other words in test-tubes they would come to me and ask me you know
Dr. Kole how long is it going to take you to make a drug and if I told them that it's
going to be say 5 maybe up to 10 years they were devastated they were asking am I going
to be still eligible am I still going to be able to be treated with a drug. As you can
imagine that was a very motivating experience realising that every month every day every
week counts in the lives of these patients.
And again recently in fact last year I met at a conference organised by another patient
organisation Parent Project for Muscular Dystrophy PPMD where I also met parents and patients
boys who are already in wheelchairs and of course the same question was raised and the
same boost to the motivation of our work was evident from their questions
So that's a very good question and important question because obviously to bring to connect
basic research with clinical trials requires a variety of expertise in between and researchers
to some extent seek that because they realise that but there's also parents organisations
again can play a very important role first of all by educating researchers who surprisingly
those especially in basic science may not exactly know what it takes to go from what
is called the benchside to the bedside. One success story is known in United States where
in fact again the DMD community was successful in arguing with congress and enticing congress
to fund research for DMD which now funds centers in a number of universities and also provides
money directly for DMD specifically designed for DMD and I would encourage parents of children
with other diseases to follow that successful path
And in fact funding organisations such as parents organisations can structure their
grants such that they require that basic researchers and clinical researchers clinicians work together
to the goal to benefit the patients.