Rare Disease Research in Canada: Paul Lasko (CIHR - Institute of Genetics)
1. Rare Disease Research in
Canada: Building on Success
Paul Lasko, Scientific Director, CIHR Institute of
Genetics
2. Rare disease research has been funded through a
larger Personalized Health Initiative
Personalized Medicine Initiative
• Enhance
health
outcomes
through
pa1ent
stra1fica1on
approaches
by
integra1ng
evidence-‐based
medicine
and
precision
diagnos1cs
into
clinical
prac1ce
• $240M
($85M
from
CIHR)
• 110
compe11on
and
applica1on
partners,
including
Genome
Canada
2
• Drive
evidence-‐based
implementa1on
of
PH
that
will
iden1fy
solu1ons
that
can
contribute
to
more
cost-‐effec1ve
and
sustainable
healthcare
• CIHR’s
investments
currently
planned
:
$45M
• Alignment
with
IC
PerMed
Personalized Health Initiative
2012
2016
eHealth Innovation Initiative
• Enhance
health
outcomes
and
health
care
delivery,
through
the
implementa1on,
evalua1on
and
scale-‐
up
of
eHealth
innova1ons
• $34.4M
($16.2M
from
CIHR)
• 77
applica1on
partners
3. Canadian Success Stories
3
• Recruited
over
3000
pa1ents
and
family
members
to
study;
• Studied
637
different
rare
diseases;
• Have
provided
a
diagnosis
to
over
1000
pa1ents;
• Have
iden1fied
85
novel
rare
disease
genes;
• Are
developing
three
experimental
therapies;
• Contribute
to
interna1onal
data
sharing
standards.
• Interna1onal
consor1um
grouping
samples
and
exper1se
on
high
grade
astrocytomas
• Iden1fied
recurrent
driver
muta1ons
affec1ng
DNA
structure,
now
part
of
WHO
test
recommenda1ons
• Developed
an
oncopanel
now
used
in
clinical
trials
and
CLIA
cer1fied
5. Network Catalyst Grant:
“Canadian Rare Diseases : Models & Mechanisms Network”
Objectives:
1. Enable collaboration between clinician scientists (rare disease gene discovery)
and basic scientists (expertise in the the cognate gene’s function)
2. Determine the functional consequences of the mutations found (validate protein
loss of function or altered function) coincident with discovery
3. Provide seed funding ($25K) to the collaborating scientists to obtain functional
data for publication or as preliminary results for a larger grant application
4. Develop an information portal for resources, databases, technologies, core
facilitites, etc. available in Canada
For more information see Hieter and Boycott (2014) Genetics
198: 443-445.
6. Clinical Gene
Discovery
Applicants
Model Organism
Investigators
Register to
Join the
Network
Generate Functional
Data
Give Insights into
Disease Pathogenesis
Validate Clinical
Gene Discoveries
Suggest
Therapeutic Targets
Entry Points
Foster Longer Standing
Collaborations
Decision Points Connections Destinations
Submit a
Connection
Application
Clinical
Advisory
Committee
Scientific
Advisory
Committee
Catalyst
Grants
Registry
Network Routemap
From the RDM website (have a look!)
http://rare-diseases-catalyst-network.ca
7. The
RDMM
has
generated
a
huge
amount
of
interest…
Ac1vity
data
as
of
4
Nov
2016
Ar1cle
about
RDMM
in
Nature
Medicine
(2015)
21:
1242-‐3
8. …and
great
research!
Nature
Gene.cs
(2016)
48:
777-‐784,
acknowledges
RDMM
support
9. Matchmaker
Exchange:
The
Next
Genera1on
Kym
Boyco>,
PhD,
MD,
FRCPC,
FCCMG
Professor
of
Pediatrics,
University
of
Oaawa
On
behalf
of
MME
Working
Group
11. • Australia
– Western
Australian
Department
of
Health
• Canada
– Canadian
Ins1tutes
for
Health
Research
– Genome
Canada
• China
– Beijing
Genomics
Ins1tute
– Chinese
Rare
Disease
Research
Consor1um
– WuXi
Apptec
• EU
– European
Commission
• Finland
– Academy
of
Finland
• France
– French
Associa1on
against
Myopathies
– Agence
Na1onal
de
la
Recherche
– Lysogene
– EORTC
• Georgia
– Children’s
New
Hospital
Management
Group
• Germany
– Federal
Ministry
of
Educa1on
and
Research
• Italy
– Italian
Higher
Ins1tute
of
Health
– Telethon
Founda1on
– Chiesi
Farmaceu1ca
• Interna1onal
Consor1um
– E-‐RARE
3
Consor1um
• Japan
– Japan
Agency
for
Medical
Research
and
Development
– Na1onal
Ins1tutes
of
Biomedical
Innova1on,
Health,
and
Nutri1on
• Republic
of
Korea
– Korean
Na1onal
Ins1tute
of
Health
• Netherlands
– The
Netherlands
Organiza1on
for
Health
Research
and
Development
– Prosensa
• Kingdom
of
Saudi
Arabia
– Saudi
Human
Genome
Project
• Spain
– Na1onal
Ins1tute
of
Health
Carlos
III
• UK
– Na1onal
Ins1tute
for
Health
Research
• USA
– Food
and
Drug
Administra1on
Orphan
Products
Grants
Program
– Isis
Pharmaceu1cals
– Na1onal
Human
Genome
Research
Ins1tute
(NIH)
– Na1onal
Center
for
Advancing
Transla1onal
Sciences(NIH)
– Na1onal
Cancer
Ins1tute
(NIH)
– Na1onal
Eye
Ins1tute
(NIH)
– Na1onal
Ins1tute
of
Neurological
Disorders
and
Stroke
(NIH)
– Na1onal
Ins1tute
of
Arthri1s
and
Musculoskeletal
and
Skin
Diseases
(NIH)
– Na1onal
Ins1tute
of
Child
Health
and
Human
Development
(NIH)
– NKT
Therapeu1cs
– Office
of
Rare
Diseases
(NIH)
– PTC
Therapeu1cs
– Sanford
Research
Ins1tute
• Interna1onal
Pharma
Companies
– Genzyme
(Sanofi)
– Novar1s
– Pfizer
– Shire
12. Progress
toward
IRDiRC’s
goals
(source:
www.irdirc.org)
• Diagnos1cs
(goal:
most
rare
diseases
by
2020)
– Nearly
3,600
rare
diseases
for
which
there
is
a
gene1c
test
available,
as
compared
with
2,200
in
2010.
• Therapies
(goal:
200
new
therapies
by
2020)
– 195
as
of
May
2016.