Day 2: RD 2022 Fall Conference Investing in Canadian research on innovative rare disease therapies From Genomics to New Therapies for Rare Diseases – Vincent Mooser, McGill University

1. From Genomics to New Therapies
for Rare Diseases
CORD Meeting– Toronto – Nov 22nd, 2022
Vincent Mooser MD
Canada Excellence Research Chair (CERC) in Genomic Medicine
Department of Human Genetics, McGill Faculty of Medicine and Health Sciences
Vincent.mooser@mcgill.ca

2. Disclosure :
I have received shares from MEDELoop, Inc.

3. Why is More Research Needed in Rare Diseases
(Dr Leanne Ward – CORD Nov 21st, 2022)
1. Registries
2. Diagnostic innovation
3. Mechanisms of disease
4. Novel therapies + clinical trials

4. A Time of Unique Opportunities
1. Genomics – high-throughput whole genome /
exome sequencing + bio-informatics + *omics
à New therapies
2. Large disease-/population based cohorts
3. IT : Electronic medical records – wearables …
4. Novel therapeutic modalities : RNA, gene
therapies…

5. Enrichment of Coding Variants
in French-Canadians

6. FTIM to
PoC
Target ID
Target
Validation
Tractable
hit to
candidate
Candidate
selection
to FTIM
Phases II-III
Disease
Lifecycle
mgt
Drug Discovery and Development :
A Suite of Well-Defined Steps
Drug Discovery Drug Development

7. FTIM to
PoC
Target ID
Target
Validation
Tractable
hit to
candidate
Candidate
selection
to FTIM
Phases II-III
Disease
Lifecycle
mgt
Drug Discovery and Development : 3 Key Challenges
CAD $ 1-3 B
8 – 25 years
Success rate 4%-6%

9. FTIM to
PoC
Target ID
Target
Validation
Tractable
hit to
candidate
Candidate
selection
to FTIM
Phases II-III
Disease
Lifecycle
mgt
PCSK9 : An Amazing Success Story
2003 2006 2015 2022

10. FTIM to
PoC
Target ID
Target
Validation
Tractable
hit to
candidate
Candidate
selection
to FTIM
Phases II-III
Disease
Lifecycle
mgt
PCSK9 : An Amazing Success Story
2003 2006 2015 2022

11. FTIM to
PoC
Target ID
Target
Validation
Tractable
hit to
candidate
Candidate
selection
to FTIM
Phases II-III
Disease
Lifecycle
mgt
Genetically-Driven Approved Non-Cancer Drugs
Gene
Disease
66 Drugs / 40 Targets

12. Most Genetically-Driven Drugs are
Approved for Metabolic Conditions

13. Genetically-Driven Drugs belong to
Various Therapy Classes

14. FTIM to
PoC
Target ID
Target
Validation
Tractable
hit to
candidate
Candidate
selection
to FTIM
Phases II-III
Disease
Lifecycle
mgt
Genetically Enriched Proof-of-Concept Study

15. Patients
Target ID
Target
Validation
RNA
Therapeutics
Pre-Clinical
Candidate
RNA-RX
CFREF
McGill CFREF Application :
From DNA to RNA – D2R

16. Patients
Target ID
Target
Validation
RNA
Therapeutics
Pre-Clinical
Candidate
RNA-RX
Precision Drug
Development
CERC
CFREF
Contribution of CERC to CFREF
Genetically-driven
Drug Discovery
Precision drug
development

17. Pandemic Preparedness

18. 18
GWAS – COVID-19 Host Genome Initiative

19. 19

21. McGill Institute of
Genomic Medicine
CERC
Rare disease patients /
Patients organizations
Hospital-based recruitment
of patients with
rare/common diseases
CERC Strategy to Recruit Patients

22. First 2 Projects CERC – RQMO - MEDELoop
1. Ehlers-Danlos Disease
2. Lactic Acidosis Saguenay-Lac St-Jean Type
First 2 Projects CERC – RQMO - MEDELoop
1. Ehlers-Danlos Disease
2. Lactic Acidosis Saguenay-Lac St-Jean Type