7:45 AM

Canada/Eastern

7:45 AM - 8:30 AM EDT
Atrium Elspeth McConnell (Bloc E)

Participant Registration

Reception for all participants will begin at 7:45 am. Regular members are invited to attend the Annual General Assembly at 8:30 am, while registration for other participants will continue until 9:45 am (Welcome Address).

8:30 AM

Canada/Eastern

8:30 AM - 9:30 AM EDT
Amphithéâtre Cruess (Bloc E)

RARE.Qc Annual General Meeting (AGM) of RARE.Qc Regular Members

Reserved for regular members of RARE.Qc. The assembly will also be available virtually. The RARE.Qc team will present a comprehensive report of the previous year, including Network activities, research advancements, and major initiatives from our governance committees. The AGM will also serve as a platform to address administrative aspects (budgets, mandates, deliverables) and, most importantly, to define research priorities and strategic directions for the coming years, with the goal of fostering new collaborations and planting the seeds for future research projects.

9:45 AM

Canada/Eastern

9:45 AM - 10:00 AM EDT
Amphithéâtre Cruess (Bloc E)

Welcome Address

1) Dr Rhian Touyz, Executive Director and Chief Scientist at the RI-MUHC. 2) Donald C Vinh, RARE.Qc Executive Director Presentation of RARE.Qc and overview of the Scientific Day.

10:00 AM

Canada/Eastern

10:00 AM - 10:10 AM EDT
Amphithéâtre Cruess (Bloc E)

Patient–Caregiver Testimonies

1) Ryan Hull, Biology student at McGill University and relative of a person living with a rare disease: Cycling concert-tour to raise awareness on rare diseases and support research. 2) Other testimony to be determined.

10:10 AM

Canada/Eastern

10:10 AM - 10:35 AM EDT
Amphithéâtre Cruess (Bloc E)

Distributed data analysis to support international rare disease research projects.

Jean-François Éthier, Full Professor, Département de médecine, Université de Sherbrooke, CIUSSS de l’Estrie-CHUS.

10:35 AM

Canada/Eastern

10:35 AM - 11:00 AM EDT
Amphithéâtre Cruess (Bloc E)

The Power of Cross-Sector Research in Rare Diseases: Natural History, Interventional, and Preclinical Studies in DM1, ARSCS, and DMOP

Élise Duchesne, Full Professor, École des sciences de la réadaptation, Faculté de médecine, Université Laval, Chercheuse régulière au Centre de recherche du CHU de Québec.

11:00 AM

Canada/Eastern

11:00 AM - 11:30 AM EDT
Atrium Elspeth McConnell (Bloc E)

Health Break and Student Poster Session 1

Session 1 of poster presentations by students: “A” Posters. Exhibitors visit and Networking.

11:30 AM

Canada/Eastern

11:30 AM - 11:35 AM EDT
Amphithéâtre Cruess (Bloc E)

Patient–Caregiver Testimony

To be determined.

11:35 AM

Canada/Eastern

11:35 AM - 12:00 PM EDT
Amphithéâtre Cruess (Bloc E)

Each rare disease is an orphan disease, both for the affected individual and for research: the example of Epidermolysis Bullosa Simplex.

Catherine Laprise, Professor, Département des sciences fondamentales à l’Université du Québec à Chicoutimi (UQAC), Titulaire de la Chaire de recherche en santé du Canada sur l’étude des déterminants génétiques de l’asthme et Directrice du Centre intersectoriel en santé durable de l’UQAC. (Presentation in French).

12:00 PM

Canada/Eastern

12:00 PM - 12:25 PM EDT
Amphithéâtre Cruess (Bloc E)

Applied and fundamental neurogenetics.

Nicolas Dupré, Full Professor, Faculté de médecine de l’Université Laval, Directeur de la Clinique de sclérose latérale amyotrophique (SLA) au CHU de Québec. (Presentation in French).

12:25 PM

Canada/Eastern

12:25 PM - 12:50 PM EDT
Amphithéâtre Cruess (Bloc E)

Using brain activity assessment to better understand and treat rare diseases.

Sarah Lippé, Full Professor, Département de psychologie, Université de Montréal, Neuropsychologue clinicienne, Chercheuse au Centre de recherche Azrieli du CHU Sainte-Justine.

12:50 PM

Canada/Eastern

12:50 PM - 1:50 PM EDT
Atrium Elspeth McConnell (Bloc E)

Lunch Break and Student Poster Session 2

Session 2 of poster presentations by students: “B” Posters. Exhibitors visit and Networking.

1:50 PM

Canada/Eastern

1:50 PM - 2:00 PM EDT
Amphithéâtre Cruess (Bloc E)

Introduction to Thematic Workshops and Career Seminar

Orientation of participants to their selected rooms based on the workshop or seminar they wish to attend.

2:00 PM

Canada/Eastern

4 parallel sessions
2:00 PM - 3:00 PM EDT
EM1.3509

Career Seminar

Panel discussion with 5 professionals from diverse backgrounds sharing their academic and professional paths with our students and early-career researchers. Panelists : 1. Visou Ady, PhD. Advisor, Business Development, Mitacs, Études Supérieures et Postdoctorales, Université de Montréal 2. Luke Anderson-Trocmé, PhD. Assistant Professor, Département de sciences biologiques de l’Université de Montréal. 3. Yasmin d’Souza, PhD. Clinical specialist in medical biology, Core molecular diagnostics laboratory, McGill University Health Center. Assistant professor, Department of Human Genetics, McGill University. 4. Claire Edrington, PhD, Project Manager at Novartis 5. Talita Conte, PhD, Scientific Project Manager, Altasciences

2:00 PM - 3:00 PM EDT
EM0.2225

Pillar 1 Thematic Workshop (Databases & Biobanking)

This session will provide a collaborative space to discuss priorities and directions specific to each pillar, address previously raised issues, and brainstorm potential solutions. The goal is to support the working group members in advancing their mandates and to clarify the next steps. The workshops will be held in person at the RI-MUHC and will also be accessible virtually for participants wishing to join remotely. Notes will be taken throughout the discussions, and a summary report will be produced to inform the working groups and the RARE.Qc Executive Committee in achieving their objectives.

2:00 PM - 3:00 PM EDT
EM1.2225

Pillar 2 Thematic Workshop (Physiopathology & Therapy Development)

This session will provide a collaborative space to discuss priorities and directions specific to each pillar, address previously raised issues, and brainstorm potential solutions. The goal is to support the working group members in advancing their mandates and to clarify the next steps. The workshops will be held in person at the RI-MUHC and will also be accessible virtually for participants wishing to join remotely. Notes will be taken throughout the discussions, and a summary report will be produced to inform the working groups and the RARE.Qc Executive Committee in achieving their objectives.

2:00 PM - 3:00 PM EDT
EM2.2225

Pillar 3 Thematic Workshop (Patient-Centered Clinical Research)

This session will provide a collaborative space to discuss priorities and directions specific to each pillar, address previously raised issues, and brainstorm potential solutions. The goal is to support the working group members in advancing their mandates and to clarify the next steps. The workshops will be held in person at the RI-MUHC and will also be accessible virtually for participants wishing to join remotely. Notes will be taken throughout the discussions, and a summary report will be produced to inform the working groups and the RARE.Qc Executive Committee in achieving their objectives.

3:00 PM

Canada/Eastern

3:00 PM - 3:30 PM EDT
Atrium Elspeth McConnell (Bloc E)

Health Break and Student Poster Session 3

Session 3 of poster presentations by students: “C” Posters. Exhibitors visit and Networking.

3:30 PM

Canada/Eastern

3:30 PM - 4:15 PM EDT
Amphithéâtre Cruess (Bloc E)

My Thesis in 3 Minutes Presentations

5 student members present their research in 180 seconds.

4:15 PM

Canada/Eastern

4:15 PM - 4:45 PM EDT
Amphithéâtre Cruess (Bloc E)

Keynote Lecture : RareKids-CAN, A pediatric Rare Disease Clinical Trial and Treatment Network.

Thierry Lacaze-Masmonteil, MD, PhD, Scientific Director, Maternal Infant Child and Youth Research Network (MICYRN).

4:45 PM

Canada/Eastern

4:45 PM - 5:00 PM EDT
Amphithéâtre Cruess (Bloc E)

Award Ceremony for Student Posters and Presentations Closing Remarks

Award ceremony for student posters and presentations,Acknowledgements and closing remarks.

5:00 PM

Canada/Eastern

5:00 PM - 6:00 PM EDT
Atrium Elspeth McConnell (Bloc E)

Networking Cocktail

A friendly moment to chat with participants, meet the speakers, and build new collaborations over a cocktail.

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