BEGIN:VCALENDAR VERSION:2.0 PRODID:-//132.216.98.100//NONSGML kigkonsult.se iCalcreator 2.20.4// BEGIN:VEVENT UID:20250810T152422EDT-4711UerhtH@132.216.98.100 DTSTAMP:20250810T192422Z DESCRIPTION:The event honours the career and memory of Preston Robb\, a pio neer epileptologist who is considered one of the founders of Canadian chil d neurology. Dr. Robb started pediatric neurology at the MCH. \n\n\nRegist er here.\n\nFor virtual attendance\, click here.\n\n\nPreston Robb Neurosc ience Lecture (12:00 p.m. - 1:00 p.m.)\n\nThe Future Is Now: Therapy Devel opment for Neurogenetic Diseases\n\nJim Dowling\, MD\, PhD\n\nSenior Scien tist\, Genetics & Genome Biology\, The Hospital for Sick Children\n\nProfe ssor\, Departments of Paediatrics and Molecular Genetics\, University of T oronto\n\n \n\nAbstract: More than 1 million Canadians are affected by a r are disease. Children with rare neurogenetic disease experience disproport ionately 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 tech nologies that now make it feasible to conceive of precise\, targeted thera pies for many rare disease patients. I will present some of our advances i n applying these technologies\, and conclude by outlining our strategy for developing individualized genetic medicines for neurogenetic disorders.\n \n \n\n\n\n \n Registration\n Programme\n Call For Abstracts\n Location\n Contac t\n Organizing Committee\n \n\n \n Registration\n\n Register here.\n \n\n \n Progr amme\n\n \n \n \n  \n \n Abstract Presentations\n \n \n \n 8:30 - 8:35\n Introduction \n Maryam Oskoui\, MD\n \n \n 8:35\n \n White matter microstructural alterations in school-aged survivors with neonatal encephalopathy treated with therap eutic hypothermia\n\n Nan-Hao Chen\n \n \n \n 8:50\n \n Clinical\, Radiological\, and Genetic Features in a Cohort of 94 Patients with Schizencephaly\n\n Em ma Rodriguez\n \n \n \n 9:10\n \n Development of the Clinical Global Impression of Severity Scale for Koolen-de Vries Syndrome (CGI-KdVS)\n\n Emily Bottone \n \n \n \n 9:25\n \n Effect of gestational age on neonatal symptoms and MRI pat terns in hemiparetic cerebral palsy: a cross-sectional study\n\n Johanie Pi che\n \n \n \n 9:40\n \n MRI-Negative Genetic Epilepsy: Not a Contraindication t o Focal Epilepsy Surgery\n\n Yunzhu Ruan\n \n \n \n 9:55\n \n Pre-clinical Evalua tion of an Antisense Oligonucleotide Therapy for the Striatal Form of RNA Polymerase III-Related Leukodystrophy using Organoid Models\n\n Samuel Gaut hier\n \n \n \n 10:10\n \n Sociological factors contribute to enhanced perceived burden of parents of children with epilepsy\n\n Katharina Schiller\n \n \n \n 10:25\n \n De novo missense TUBA1B variants cause a developmental disorder w ithin and beyond the Tubulinopathy phenotypic spectrum\n\n Andrea Accogli\n \n \n \n 10:40\n \n EPRS1-Related Leukodystrophy: Clinical\, genetic and pathop hysiological characterization using patient-derived iPSCs\n\n Alexandra Cha pleau\n \n \n \n 10:55\n \n The impact of intraoperative MRI confirming complete ness of corpus callosotomy and tissue biopsy on the outcome of pediatric p atients with drug refractory epilepsy\n\n Laurence Veilleux\n \n \n \n 11:15 - 11:50\n \n Refreshment Pause\n \n \n \n 12:00 - 1:00\n \n Preston Robb Lecture\n\n The Future Is Now: Therapy Development for Neurogenetic Diseases\n\n Dr. Ji m Dowling\, MD\, PhD\n\n Senior Scientist\, Genetics & Genome Biology\, The Hospital for Sick Children\n\n Professor\, Departments of Paediatrics and Molecular Genetics\, University of Toronto\n \n \n \n \n \n\n \n Call For Abstrac ts\n\n This year the abstract presentations are scheduled from 8:30 a.m. to 11:00 a.m.\, preceding the Preston Robb Neuroscience Lecture. Presentatio ns will be 10 minutes long with 5 minutes for questions.\n\n We invite you to submit abstracts on any neuroscience-related topic (up to 150 words). P lease submit your abstract\, including the title and co-author(s)\, by Fri day\, November 1\, 2024. Submit your abstract here.\n \n\n \n Location\n\n RI- MUHC: Glen Site\n\n E S1.1129 / auditorium of the Research Institute\n\n Gle n Site: Built in 2015\, the RI-MUHC at the Glen site emphasizes the import ance of translational research by grouping laboratory\, clinical and evalu ative research in close proximity. Research activities are housed in the C entre for Innovative Medicine (CIM\, clinical research) and the Centre for Translational Biology (CTB\, fundamental or pre-clinical research).\n\n 10 01 Decarie Boulevard\, Montreal\, Quebec\, H4A 3J1\n \n\n \n Contact\n\n Debor ah Rashcovsky\, Events Lead\n\n Neuro Events\, The Neuro\, Ä¢¹½¶ÌÊÓƵ Universit y\n\n debbie.rashcovsky [at] mcgill.ca\n \n\n \n Organizing Committee\n\n Marya m Oskoui\, MD\, Director\, Division of Pediatric Neurology Montreal Childr en's Hospital - Ä¢¹½¶ÌÊÓƵ Health Centre Full Professor\, Departmen ts of Pediatrics\, Neurology & Neurosurgery\, Ä¢¹½¶ÌÊÓƵ\n\n Deborah Rashcovsky\, Events Lead\, The Neuro\n \n\n DTSTART:20241127T133000Z DTEND:20241127T180000Z LOCATION:RI Auditorium\, CA\, QC\, Montreal\, H4A 3J1\, Glen Site (MUHC)\, 1001 Decarie Boulevard SUMMARY:49th Preston Robb Neuroscience Day URL:/neuro/channels/event/49th-preston-robb-neuroscien ce-day-359534 END:VEVENT END:VCALENDAR