RI-MUHC Annual Report

RI-MUHC ANNUAL REPORT 2021

YEAR IN REVIEW

CHILD HEALTH AND HUMAN DEVELOPMENT (CHHD) PROGRAM

RESEARCH HIGHLIGHTS

$3.4M for new Centre for Applied Nanomedicine

Drs. Janusz Rak (CHHD Program) and Peter Metrakos (Cancer Research Program) are project leads for a new Centre for Applied Nanomedicine at the RI-MUHC with funding from the Canada Foundation for Innovation. A node in technology network connecting several McGill labs, this cutting-edge facility will accommodate the study of extracellular vesicles, fostering research on the frontier of personalized medicine.

Attention-deficit/hyperactivity disorder (ADHD) and car crash risk

Dr. Lily Hechtman is senior author of a 20-year study showing that persistence of ADHD into adulthood is an important predictor of car crash risk. Findings underscore the importance of continued treatment for ADHD long after childhood and adolescence, if symptoms persist. (JAACAP)

Dr. Lily Hechtman led a 20-year ADHD study; Drs. Janusz Rak and Peter Metrakos are project leads for the new Centre for Applied Nanomedicine at the RI-MUHC (L to R)

Gene therapy to restore sight coming to the Montreal Children's Hospital and to Quebec

Health Canada approved the first gene therapy in Canada for patients with inherited retinal dystrophies caused by the RPE65 gene mutation. Thanks to research by Dr. Robert K. Koenekoop and colleagues, dozens of young patients will be among the first in the country to benefit from the Luxturna® treatment, which improves vision and slows the progressive loss of vision.

Treating inherited retinal dystrophies: Dr. Robert Koenekoop

Selected CHHD Program news links

Gene therapy, from research to treatment: Clinical research coordinators Elvis Atanga, Christine Gannon and Ayan Ibrahim at the Centre for Innovative Medicine, RI-MUHC, and MCH Ophtalmology clinical staff members Gaëla Cariou-Panier, Mona Hijazi, Raquel Beneish and Connie Pham (L to R) — Gene therapy, from research to treatment: Clinical research coordinators Elvis Atanga, Christine Gannon and Ayan Ibrahim at the Centre for Innovative Medicine, RI‑MUHC, and MCH Ophtalmology clinical staff members Gaëla Cariou-Panier, Mona Hijazi, Raquel Beneish and Connie Pham (L to R)

SELECTED PUBLICATIONS

Carol C.L. Chen, Shriya Deshmukh, Selin Jessa, Djihad Hadjadj, Véronique Lisi, Augusto Faria Andrade, Damien Faury, Wajih Jawhar, Rola Dali, Hiromichi Suzuki, Manav Pathania, Deli A, Frank Dubois, Eleanor Woodward, Steven Hébert, Marie Coutelier, Jason R. Karamchandani, Steffen Albrecht, Sebastian Brandner, Nicolas de Jay, Tenzin Gayden, Andrea Bajic, Ashot S. Harutyunyan, Dylan M. Marchione, Leonie G. Mikael, Nikoleta Juretic, Michele P. Zeinieh, Caterina Russo, Nicola Maestro, Angelia V. Bassenden, Péter Hauser, József Virga, László Bognàr, Álmos P. Klekner, Michal Zápotocký, A. Vicha, Lenka Krsková, Katerina Hadrava Vánová, Josef Zámecník, David Sumerauer, Paul G. Ekert, David S. Ziegler, Benjamin Ellezam, Mariella G. Filbin, Mathieu Blanchette, Jordan R. Hansford, Donganh Khuong-Quang, Albert Marinus Berghuis, Alexander Gregory Weil, Benjamin A. Garcia, Livia Garzia, Stephen C. MacK, Rameen Beroukhim, Keith L. Ligon, Michael D. Taylor, Pratiti Bandopadhayay, Christof Maria Kramm, Stefan Michael Pfister, Andrey G. Korshunov, Dominik Sturm, David T.W. Jones, Paolo Salomoni, Claudia L. Kleinman, Nada Jabado. Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis. Cell 183(6):1617-1633.e22, 2020. doi: 10.1016/j.cell.2020.11.012.

Dongsic Choi, Laura Montermini, Brian Meehan, Lazaris Anthoula, Peter Metrakos, Janusz Rak. Oncogenic RAS drives the CRAF-dependent extracellular vesicle uptake mechanism coupled with metastasis. Journal of Extracellular Vesicles 10(8):e12091, 2021. doi: 10.1002/jev2.12091.

Maryam Rezaei, William Buckett, Eric Bareke, Urvashi Surti, Jacek Majewski, Rima Slim. A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I. Journal Medical Genetics jmedgenet-2021-107875, 2021. doi: 10.1136/jmedgenet-2021-107875.

Laleh Abbassi, Stephany el-Hayek, Karen Freire Carvalho, Wusu Wang, Qin Yang, Sofia Granados-Aparici, Rafael Gianella Mondadori, Vilceu Bordignon, Hugh J. Clarke. Epidermal growth factor receptor signaling uncouples germ cells from the somatic follicular compartment at ovulation. Nature Communication 12(1):1438, 2021. doi: 10.1038/s41467-021-21644-z.

Emilie Palisaitis, Anas El-Fathi, Julia Elisabeth von Oettingen, Ahmad Haidar, Laurent Legault. A Meal Detection Algorithm for the Artificial Pancreas: A Randomized Controlled Clinical Trial in Adolescents With Type 1 Diabetes. Diabetes Care 44(2):604-606, 2021. doi: 10.2337/dc20-1232.

Meranda M. Nakhla, David D. Cuthbertson, Dorothy J. Becker, Daniel̀e Le Pacaud, Johnny F. Ludvigsson, Mikael Knip, Laurent Legault. Diabetic Ketoacidosis at the Time of Diagnosis of Type 1 Diabetes in Children: Insights From TRIGR. JAMA Pediatrics 175(5):518-520, 2021. doi: 10.1001/jamapediatrics.2020.5512.

Anjellica Chen, Sasha Dyck Holzinger, Maryam Oskoui, Michael Israel Shevell. Cerebral Palsy in Canadian Indigenous children. Developmental Medicine & Child Neurology 63(5):614-622, 2021. doi: 10.1111/dmcn.14776.

Marie Eve Bolduc, Eliane Dionne, Isabelle J. Gagnon, Janet E. Rennick, Annette Majnemer, Marie Brossard-Racine. Motor Impairment in Children With Congenital Heart Defects: A Systematic Review. Pediatrics 146(6):e20200083, 2020. doi: 10.1542/peds.2020-0083.

Lina Abou-Abbas, Stefon van Noordt, James A. Desjardins, Mike Cichonski, Mayada Elsabbagh. Use of Empirical Mode Decomposition in ERP Analysis to Classify Familial Risk and Diagnostic Outcomes for Autism Spectrum Disorder. Brain Science 11(4):409, 2021. doi: 10.3390/brainsci11040409.

Brett Burstein, Vikram Sabhaney, Jeffrey N. Bone, Quynh Doan, Fahad F. Mansouri, Garth D. Meckler. Prevalence of Bacterial Meningitis Among Febrile Infants Aged 29-60 Days With Positive Urinalysis Results: A Systematic Review and Meta-analysis. JAMA Network Open 4(5):e214544, 2021. doi: 10.1001/jamanetworkopen.2021.4544.

Isabelle J. Gagnon, Elizabeth F. Teel, Gerard Gioia, Mary Aglipay, Nick James Barrowman, Maegan D.S. Sady, Christopher G. Vaughan, Roger L. Zemek, Martin H. Osmond, Stephen B. Freedman, Jocelyn Gravel, Gurinder S. Sangha, Kathy Boutis, Darcy L. Beer, William Raine Craig, Emma C.M. Burns, Ken J. Farion. Parent-child agreement on postconcussion symptoms in the acute postinjury period. Pediatrics 146(1):e20192317, 2020. doi: 10.1542/peds.2019-2317.

Amanda I. Baumholtz, Patrizia De Marco, Valeria Capra, Aimee K. Ryan. Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects. Frontiers in Neuroscience 14:664, 2020. doi: 10.3389/fnins.2020.00664.

Eleonora Scarlata, Maria C Fernandez, Cristian O'Flaherty. A Novel Combination of γ-Tocopherol-Rich Mixture of Tocopherols and Ascorbic Acid Restores Fertility in Cases of Tyrosine Nitration-Associated Male Infertility in Mice. Antioxidants 9(7):613, 2020. doi: 10.3390/antiox9070613.

Luc Marchand, Meihang Li, Coralie Leblicq, Ibrar Rafique, Tugba Alarcon-Martinez, Claire Lange, Laura Rendon, Emily Tam, Ariane Courville-Le Bouyonnec, Constantin Polychronakos. Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection. Journal of Clinical Endocrinological Metabolism 106(6):1804-1810, 2021. doi: 10.1210/clinem/dgab056.