IMS Magazine - Summer 2012 edition in PDF format - Institute of ...
IMS Magazine - Summer 2012 edition in PDF format - Institute of ...
IMS Magazine - Summer 2012 edition in PDF format - Institute of ...
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FEATURE SPOTLIGHT<br />
Advanc<strong>in</strong>g Genomic Medic<strong>in</strong>e <strong>in</strong> Toronto<br />
An Interview with Stephen W. Scherer, PhD<br />
By Tetyana Pekar<br />
The McLaughl<strong>in</strong> Centre<br />
Advanc<strong>in</strong>g Genomic Medic<strong>in</strong>e<br />
You may not have yet heard<br />
about it – and you certa<strong>in</strong>ly won’t<br />
f<strong>in</strong>d it on the map – but McLaughl<strong>in</strong><br />
Centre scientists and collaborators<br />
are mak<strong>in</strong>g scientific breakthroughs, develop<strong>in</strong>g<br />
new diagnostic tests, and mak<strong>in</strong>g<br />
a last<strong>in</strong>g impact on cl<strong>in</strong>ical management<br />
<strong>in</strong> Toronto and <strong>in</strong>ternationally.<br />
The McLaughl<strong>in</strong> Centre derives its name<br />
from the founder <strong>of</strong> General Motors <strong>of</strong><br />
Canada, Colonel Robert Samuel McLaughl<strong>in</strong>,<br />
“an entrepreneur and a brilliant man”<br />
<strong>in</strong> the words <strong>of</strong> Dr. Stephen Scherer, the<br />
Director <strong>of</strong> the McLaughl<strong>in</strong> Centre. “When<br />
he passed away, he put a large portion <strong>of</strong><br />
his money <strong>in</strong>to a foundation and said to<br />
dissolve it <strong>in</strong> 50 years, because no one will<br />
remember who he is <strong>in</strong> 50 years.” And so<br />
the Foundation ran a competition and<br />
University <strong>of</strong> Toronto put <strong>in</strong> an application<br />
and won. The orig<strong>in</strong>al 50 million dollar<br />
<strong>in</strong>vestment, which is protected, was leveraged<br />
to 200 million by the university, government,<br />
and partner hospitals.<br />
For about two years now, the McLaughl<strong>in</strong><br />
Centre has been focused on advanc<strong>in</strong>g the<br />
field <strong>of</strong> genomic medic<strong>in</strong>e.<br />
“When I became the Director, we refocused<br />
on the concept <strong>of</strong> us<strong>in</strong>g genomewide data<br />
to try to identify risk genes for particular<br />
diseases, and equally importantly, to move<br />
those <strong>in</strong>to the hospital diagnostic sett<strong>in</strong>g,”<br />
says Scherer. Their goal is to fund science<br />
that will not only impact the patients and<br />
their families, but will also generate <strong>in</strong><strong>format</strong>ion<br />
and data that will be used for<br />
th<strong>in</strong>gs like drug development.<br />
The McLaughl<strong>in</strong> Centre runs an open competition<br />
and funds approximately 10 grants<br />
a year, all <strong>in</strong> the area <strong>of</strong> genomic medic<strong>in</strong>e.<br />
Fund<strong>in</strong>g research, however, is just one part<br />
<strong>of</strong> its mandate.<br />
One <strong>of</strong> the McLaughl<strong>in</strong> Centre’s goals <strong>in</strong><br />
the next 5–10 years is to ensure that Toronto<br />
becomes a leader <strong>in</strong> genomic medic<strong>in</strong>e.<br />
The <strong>IMS</strong> <strong>Magaz<strong>in</strong>e</strong> asked Dr. Scherer how<br />
the centre plans to achieve this goal.<br />
“The short answer: tra<strong>in</strong><strong>in</strong>g programs,<br />
fund<strong>in</strong>g research projects… and br<strong>in</strong>g<strong>in</strong>g a<br />
community <strong>of</strong> scientists together.”<br />
Scherer emphasizes that “close to 25 percent<br />
<strong>of</strong> the fund<strong>in</strong>g is applied to education,<br />
tra<strong>in</strong><strong>in</strong>g, <strong>in</strong>vest<strong>in</strong>g <strong>in</strong> the MD/PhD program;<br />
and many <strong>of</strong> these students are do<strong>in</strong>g<br />
their PhDs <strong>in</strong> the <strong>IMS</strong>.” The McLaughl<strong>in</strong><br />
Centre also supports projects that are<br />
<strong>in</strong>vestigat<strong>in</strong>g the downstream effect <strong>of</strong><br />
genetic <strong>in</strong><strong>format</strong>ion, support<strong>in</strong>g genetic<br />
counsell<strong>in</strong>g programs, and determ<strong>in</strong><strong>in</strong>g<br />
the best way to collect data and deliver it<br />
to the patient.<br />
“[The] McLaughl<strong>in</strong> Centre is<br />
a unique experiment, and it’s<br />
go<strong>in</strong>g <strong>in</strong>credibly well.”<br />
A unique feature <strong>of</strong> the centre is the Accelerator<br />
Grant program. “[Currently] if<br />
you have a new idea, it is hard to get money<br />
right away to explore that.” The accelerator<br />
program provides scientists with the opportunity<br />
to get seed fund<strong>in</strong>g for a year to<br />
get prelim<strong>in</strong>ary data and see whether the<br />
project will be fruitful. Scientists can then<br />
apply to receive fund<strong>in</strong>g to complete the<br />
project.<br />
F<strong>in</strong>ally, the third goal is to br<strong>in</strong>g a community<br />
<strong>of</strong> scientists together. Scherer po<strong>in</strong>ts<br />
out that this is a new field, and hav<strong>in</strong>g critical<br />
mass <strong>of</strong> cl<strong>in</strong>icians and scientists will<br />
create momentum for research <strong>in</strong> genomic<br />
medic<strong>in</strong>e and lead to more <strong>in</strong>novations and<br />
breakthroughs. Indeed, collaboration is a<br />
requirement <strong>in</strong> the grants that McLaughl<strong>in</strong><br />
funds: “there need[s] to be two or more<br />
partner <strong>in</strong>stitutions <strong>in</strong>volved.”<br />
In this new and rapidly develop<strong>in</strong>g field,<br />
it is challeng<strong>in</strong>g to stay on top <strong>of</strong> research<br />
f<strong>in</strong>d<strong>in</strong>gs and <strong>in</strong>novations <strong>in</strong> technology.<br />
An important part <strong>of</strong> the McLaughl<strong>in</strong> Centre’s<br />
mandate is to develop tools and databases<br />
that will be cont<strong>in</strong>uously updated<br />
with new <strong>in</strong><strong>format</strong>ion available <strong>in</strong> the literature<br />
about genes and genetic diseases. An<br />
equally important component is educat<strong>in</strong>g<br />
cl<strong>in</strong>icians, nurses, and healthcare pr<strong>of</strong>essionals<br />
(as well as scientists both <strong>in</strong> and<br />
outside <strong>of</strong> the field) to access and properly<br />
<strong>in</strong>terpret this data.<br />
The breadth and calibre <strong>of</strong> McLaughl<strong>in</strong><br />
Centre scientists is truly remarkable. The<br />
accelerator grants that were funded <strong>in</strong> 2011<br />
have already led to excit<strong>in</strong>g new f<strong>in</strong>d<strong>in</strong>gs.<br />
Dr. Danielle Andrade’s research on the genetics<br />
<strong>of</strong> juvenile myoclonic epilepsy identified<br />
a causative mutation <strong>in</strong> the CLN6<br />
gene; this work is currently <strong>in</strong> press <strong>in</strong> the<br />
Pediatric Neurology journal. Dr. Anne Bassett’s<br />
work has identified rare copy number<br />
variants that could play an important role<br />
<strong>in</strong> the development <strong>of</strong> a common heart defect,<br />
the tetralogy <strong>of</strong> Fallot; these f<strong>in</strong>d<strong>in</strong>gs<br />
are soon to be reported <strong>in</strong> PloS Genetics.<br />
Other studies funded by the McLaughl<strong>in</strong><br />
Centre <strong>in</strong>clude <strong>in</strong>vestigat<strong>in</strong>g how alternative<br />
splic<strong>in</strong>g may contribute to Alzheimer’s<br />
disease (Dr. Blencowe); development <strong>of</strong> a<br />
service to centralize cl<strong>in</strong>ical pharmacogenetic<br />
<strong>in</strong><strong>format</strong>ion and counsel<strong>in</strong>g (Dr.<br />
Koren); exam<strong>in</strong><strong>in</strong>g the impact and <strong>in</strong>tegration<br />
<strong>of</strong> genetic technologies <strong>in</strong> adult and<br />
pediatric care (Dr. Shuman); as well as research<br />
identify<strong>in</strong>g disease-caus<strong>in</strong>g genes <strong>in</strong><br />
immunoglob<strong>in</strong> A neuropathy (Dr. Pei) and<br />
renal diseases (Dr. Paterson), to name a<br />
few. “[The] McLaughl<strong>in</strong> Centre is a unique<br />
experiment, and it’s go<strong>in</strong>g <strong>in</strong>credibly well.”<br />
The <strong>IMS</strong> <strong>Magaz<strong>in</strong>e</strong> agrees, and awaits with<br />
excitement the novel f<strong>in</strong>d<strong>in</strong>gs and technological<br />
breakthroughs that are sure to come<br />
to fruition from McLaughl<strong>in</strong> Centre scientists.<br />
23 | <strong>IMS</strong> MAGAZINE SUMMER <strong>2012</strong> GENOMIC MEDICINE