THE INSTITUTE ANNUAL REPORT 2025
CHILD HEALTH AND HUMAN DEVELOPMENT (CHHD) PROGRAM
SELECTED HIGHLIGHTS
A first-ever effective therapy for rare devastating neurodegenerative diseases
With the support of a nonprofit organization started by a patient’s family, rare disease expert Dr. Kenneth Myers initiated a clinical trial for a promising treatment for a severe and deadly disease caused by mutations in the POLG gene. The results surpass all expectations.
A new treatment could improve the lives of patients with mitochondrial diseases called POLG-related disorders, according to a unique clinical trial led at The Institute. Patients affected by these disorders experience progressive neurological decline and have a median survival of five months after onset of symptoms. The preliminary results from the Phase 2 open label clinical trial, published in eClinicalMedicine, showed that Deoxycytidine/Deoxythymidine Combination Therapy is a safe and potentially effective treatment for POLG-related disorders. The study was almost entirely funded by the Liam Foundation, named after a patient diagnosed in 2019 with a POLG-related disorder at the Montreal Children’s Hospital (MCH). Learn more
Addressing health disparities through genomics
Researcher from The Institute co-leads $8.3 million genomics sequencing project to advance healthcare for Black communities
Loydie Jerome-Majewska, PhD, a senior scientist at The Institute, is one of four research co-leaders awarded $8.3 million by Genome Canada for a groundbreaking project in precision medicine. As part of the newly launched Canadian Precision Health Initiative (CPHI), this research will sequence 11,100 genomes from Black individuals across Ontario, Quebec, and Nova Scotia to address critical gaps in genomic research and improve treatments for chronic diseases disproportionately affecting Black populations. The initiative is expected to make a significant contribution to global precision medicine by integrating valuable insights into international genomic databases. Learn more
More research highlights from the CHHD Program
SELECTED PUBLICATIONS
Michael J. Johnston, John J.Y. Lee, Bo Hu, Ana Nikolic, Elham Hasheminasabgorji, Audrey Baguette, Seungil Paik, Haifen Chen, Sachin Kumar, Carol C.L. Chen, Selin Jessa, Polina Balin, Vernon Fong, Melissa Zwaig, Kulandaimanuvel Antony Michealraj, Xun Chen, Yanlin Zhang, Srinidhi Varadharajan, Pierre Billon, Nikoleta Juretic, Craig Daniels, Amulya Nageswara Rao, Caterina Giannini, Eric M. Thompson, Miklos Garami, Peter Hauser, Timea Pocza, Young Shin Ra, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji Yeoun Lee, Wieslawa Grajkowska, Marta Perek-Polnik, Sameer Agnihotri, Stephen Mack, Benjamin Ellezam, Alex Weil, Jeremy Rich, Guillaume Bourque, Jennifer A. Chan, V. Wee Yong, Mathieu Lupien, Jiannis Ragoussis, Claudia Kleinman, Jacek Majewski, Mathieu Blanchette, Nada Jabado, Michael D. Taylor, Marco Gallo. TULIPs decorate the three-dimensional genome of PFA ependymoma. Cell, 187(18), 4926-4945, 2024. DOI: 10.1016/j.cell.2024.06.023
Alya Al Sager, Sherryl Hope Goodman, Joshua Jeong, Paul Arthur Bain, Marilyn N. Ahun. Effects of multi-component parenting and parental mental health interventions on early childhood development and parent outcomes: a systematic review and meta-analysis. The Lancet Child and Adolescent Health 8(9): 656-669, 2024: 85200863577: DOI: 10.1016/S2352-4642(24)00134-2
Lamprini Psychogiou, Marie C. Navarro, Massimiliano Orri, Sylvana M. Côté, Marilyn N. Ahun. Childhood and Adolescent Depression Symptoms and Young Adult Mental Health and Psychosocial Outcomes. JAMA Network Open 7(8), 2024. DOI: 10.1001/jamanetworkopen.2024.25987
Vivianne Landry, Koorosh Semsar-Kazerooni, Tanya Chen, Joshua Gurberg, Lily H.P. Nguyen, Evelyn Constantin. Diagnostic accuracy of portable sleep monitors in pediatric sleep apnea: A systematic review. Sleep Medicine Reviews 78, 2024. DOI: 10.1016/j.smrv.2024.101991
Kimberley R. Kaspy, Sharon D. Dell, Stephanie Duggins Davis, Thomas W. Ferkol, Margaret R. Rosenfeld, Scott D. Sagel, Carlos E. Milla, Kenneth N. Olivier, Andrew T. Barber, Wallace Wee, Fengchang Lin, Lang Li, Emmanouil Rampakakis, Maimoona A. Zariwala, Michael R. Knowles, Margaret W. Leigh, Adam J. Shapiro. Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia. Chest 165(5): 17-181, 2024.
Augusto Faria Andrade, Alva Annett, Elham Karimi, Danai Georgia Topouza, Morteza Rezanejad, Yitong Liu, Michael D. McNicholas, Eduardo G. Gonzalez Santiago, Dhana Llivichuzhca-Loja, Arne Gehlhaar, Selin Jessa, Antonella De Cola, Bhavyaa Chandarana, Caterina Russo, Damien Faury, Geoffroy Danieau, Evan Puligandla, Yuhong Wei, Michele P. Zeinieh, Qing Wu, Steven Hébert, Nikoleta Juretic, Emily M. Nakada, Brian Krug, Valérie Larouche, Alexander Gregory Weil, Roy William Roland Dudley, Jason Raj Karamchandani, Sameer A. Agnihotri, Daniela F. Quail, Benjamin Ellezam, Liza Konnikova, Logan A. Walsh, Manav Pathania, Claudia L. Kleinman, Nada Jabado. Immune landscape of oncohistone-mutant gliomas reveals diverse myeloid populations and tumor-promoting function. Nature Communications 15(1), 2024. DOI: 10.1038/s41467-024-52096-w
Shruti Kumar, Eric Bareke, Jimmy Lee, Emma Carlson, Fjodor Merkuri, Evelyn E. Schwager, Steven Maglio, Jennifer L. Fish, Jacek Majewski, Loydie Anne Jerome-Majewska. Etiology of craniofacial and cardiac malformations in a mouse model of SF3B4-related syndromes. Proceedings of the National Academy of Sciences of the United States of America 121(39), e2405523121, 2024. DOI: 10.1073/pnas.2405523121
Olivier Renaud-Charest, Alexander Stoljar Gold, Elise Mok, Jessica Christine Kichler, Meranda M. Nakhla, Patricia Tak Sam Li. Suicidal Ideation, Suicide Attempts, and Suicide Deaths in Adolescents and Young Adults With Type 1 Diabetes: A Systematic Review and Meta-analysis. Diabetes Care 47(7): 1227-1237, 2024: 85196901073: DOI: 10.2337/dc24-0411
Maryam Rezaei, Manqi Liang, Zeynep Yalcin, Jacinta H. Martin, Parinaz Kazemi, Eric Bareke, Zhaojia Ge, Majid Fardaei, Claudio A. Benadiva, Reda Abdel Hady Hemida, Adnan Hassan, Geoffrey J. Maher, Ebtesam Mohamed Abdalla, William M. Buckett, Pierre Adrien Bolze, Igbaljit Sandhu, Onur Duman, Surasksha Agrawal, JianHua Qian, Jalal Vallian Broojeni, Lavi Bhati, Pierre Miron, Fabienne Allias, Amal Selim, Rosemary A Fisher, Michael J Seckl, Philippe Sauthier, Isabelle Touitou, Sean Lin Tan, Jacek Majewski, Teruko Taketo, Rima Slim. Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles. Journal of Clinical Investigation 134(22), 2024: 85209701827: DOI: 10.1172/JCI170669
Cristiana Spinelli, Lata H. Adnani, Brian Meehan, Laura Montermini, Sidong Huang, Minjun Kim, Tamiko Nishimura, Sidney E. Croul, Ichiro Nakano, Yasser Riazalhosseini, Janusz W. Rak. Mesenchymal glioma stem cells trigger vasectasia---distinct neovascularization process stimulated by extracellular vesicles carrying EGFR. Nature Communications 15(1), 2024: 85189530358: DOI: 10.1038/s41467-024-46597-x
Philippe Sylvestre, Paul L. Aronson, Alexandra Yannopoulos, Cassandra Poirier, Nathalie Orr Orr Gaucher, Brett Burstein. Parental Preferences and Shared Decision-Making for the Management of Febrile Young Infants. Pediatrics 154(4), 2024: 85205525683: DOI: 10.1542/peds.2024-066420
Maria P. Velez, Marina Ivanova, Jonas Shellenberger, Jessica Pudwell, Joel Geoffrey Ray. Severe Maternal and Neonatal Morbidity Among Gestational Carriers A Cohort Study. Annals of Internal Medicine 177(11): 1482-1488, 2024: 85208583282: DOI: 10.7326/M24-0417
