49th Preston Robb Neuroscience Day
The event honours the career and memory of听Preston听Robb, a pioneer epileptologist who is considered one of the founders of Canadian child neurology. Dr. Robb started pediatric neurology at the MCH.听
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For virtual attendance,
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
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Abstract:听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.
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Registration
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Programme
| 听 |
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听- 11:50 |
Refreshment Pause |
| 12:00 - 1:00 |
Preston Robb LectureThe 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.听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
Location
RI-MUHC: Glen Site
E S1.1129 / auditorium of the Research Institute
Glen Site:听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听听(CIM, clinical research) and the听听(CTB, fundamental or pre-clinical research).
1001 Decarie Boulevard, Montreal, Quebec,听H4A 3J1
Contact
Deborah Rashcovsky, Events Lead
Neuro Events, The Neuro, 91社区
debbie.rashcovsky [at] mcgill.ca
Organizing Committee
Maryam Oskoui, MD,听Director, Division of Pediatric Neurology Montreal听Children's听Hospital - 91社区 Health Centre Full Professor, Departments of Pediatrics, Neurology & Neurosurgery, 91社区
Deborah Rashcovsky, Events Lead, The Neuro
