Event

49th Preston Robb Neuroscience Day

Wednesday, November 27, 2024 08:30to13:00
RI Auditorium, Glen Site (MUHC), 1001 Decarie Boulevard, Montreal, QC, H4A 3J1, CA

The event honours the career and memory of Preston Robb, a pioneer epileptologist who is considered one of the founders of Canadian child neurology. Dr. Robb started pediatric neurology at the MCH. 


Register here.

For virtual attendance, click here.


Preston Robb Neuroscience Lecture (12:00 p.m. - 1:00 p.m.)

The Future Is Now: Therapy Development for Neurogenetic Diseases

Jim Dowling, MD, PhD

Senior Scientist, Genetics & Genome Biology, The Hospital for Sick Children

Professor, Departments of Paediatrics and Molecular Genetics, University of Toronto

 

Abstract: More than 1 million Canadians are affected by a rare disease. Children with rare neurogenetic disease experience disproportionately severe health outcomes, often including early death. There have been great advances in our ability to diagnosis rare diseases, and I will highlight some of the work that has enabled this. On the contrary, there is a great gap in terms of therapies, where treatments are available for <5% of all rare diseases. Fortunately, there are emerging tools and technologies that now make it feasible to conceive of precise, targeted therapies for many rare disease patients. I will present some of our advances in applying these technologies, and conclude by outlining our strategy for developing individualized genetic medicines for neurogenetic disorders.

 


Registration

Register here.

Programme

 

Abstract Presentations

8:30 - 8:35 Introduction
Maryam Oskoui, MD
8:35

White matter microstructural alterations in school-aged survivors with neonatal encephalopathy treated with therapeutic hypothermia

Nan-Hao Chen

8:50

Clinical, Radiological, and Genetic Features in a Cohort of 94 Patients with Schizencephaly

Emma Rodriguez

9:10

Development of the Clinical Global Impression of Severity Scale for Koolen-de Vries Syndrome (CGI-KdVS)

Emily Bottone

9:25

Effect of gestational age on neonatal symptoms and MRI patterns in hemiparetic cerebral palsy: a cross-sectional study

Johanie Piche

9:40

MRI-Negative Genetic Epilepsy: Not a Contraindication to Focal Epilepsy Surgery

Yunzhu Ruan

9:55

Pre-clinical Evaluation of an Antisense Oligonucleotide Therapy for the Striatal Form of RNA Polymerase III-Related Leukodystrophy using Organoid Models

Samuel Gauthier

10:10

Sociological factors contribute to enhanced perceived burden of parents of children with epilepsy

Katharina Schiller

10:25

De novo missense TUBA1B variants cause a developmental disorder within and beyond the Tubulinopathy phenotypic spectrum

Andrea Accogli

10:40

EPRS1-Related Leukodystrophy: Clinical, genetic and pathophysiological characterization using patient-derived iPSCs

Alexandra Chapleau

10:55

The impact of intraoperative MRI confirming completeness of corpus callosotomy and tissue biopsy on the outcome of pediatric patients with drug refractory epilepsy

Laurence Veilleux

11:15 - 11:50

Refreshment Pause

12:00 - 1:00

Preston Robb Lecture

The Future Is Now: Therapy Development for Neurogenetic Diseases

Dr. Jim Dowling, MD, PhD

Senior Scientist, Genetics & Genome Biology, The Hospital for Sick Children

Professor, Departments of Paediatrics and Molecular Genetics, University of Toronto

Call For Abstracts

This year the abstract presentations are scheduled from 8:30 a.m. to 11:00 a.m., preceding the Preston Robb Neuroscience Lecture. Presentations will be 10 minutes long with 5 minutes for questions.

We invite you to submit abstracts on any neuroscience-related topic (up to 150 words). Please submit your abstract, including the title and co-author(s), by Friday, November 1, 2024. Submit your abstract here.

Location

RI-MUHC: Glen Site

E S1.1129 / auditorium of the Research Institute

Glen Site: Built in 2015, the RI-MUHC at the Glen site emphasizes the importance of translational research by grouping laboratory, clinical and evaluative research in close proximity. Research activities are housed in the Centre for Innovative Medicine (CIM, clinical research) and the Centre for Translational Biology (CTB, fundamental or pre-clinical research).

1001 Decarie Boulevard, Montreal, Quebec, H4A 3J1

Contact

Deborah Rashcovsky, Events Lead

Neuro Events, The Neuro, McGill University

debbie.rashcovsky [at] mcgill.ca

Organizing Committee

Maryam Oskoui, MD, Director, Division of Pediatric Neurology Montreal Children's Hospital - McGill University Health Centre Full Professor, Departments of Pediatrics, Neurology & Neurosurgery, McGill University

Deborah Rashcovsky, Events Lead, The Neuro

The Neuro logo McGill logoMcGill University Health Centre logoKillam Laureates

 

The Neuro (Montreal Neurological Institute-Hospital) is a bilingual academic healthcare institution. We are a McGill research and teaching institute; delivering high-quality patient care, as part of the Neuroscience Mission of the McGill University Health Centre. We are proud to be a Killam Institution, supported by the Killam Trusts.

 

 

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