RI-MUHC Annual Report





Next-generation sequencing and recurrent pregnancy loss

Through next-generation sequencing, Rima Slim, PhD, and her team identified the cause of recurrent pregnancy loss in a patient who had experienced 16 miscarriages and no full-term pregnancies over a 15-year period. They showed that a mutation in the CCNB3 gene, which plays a critical role in cell division leading to the creation of a normal egg, led to the loss of the embryo in each of her pregnancies. These findings could help provide answers for some women dealing with recurrent pregnancy loss. (The Journal of Medical Genetics)

Developing a national pediatric diabetes registry

Drs. Meranda Nakhla and Julia Von Oettingen are co-leaders of a pan-Canadian team awarded five years of funding to develop a national pediatric diabetes registry. They jointly lead the project with Drs. Shazhan Amed from the University of British Columbia (UBC) and Ian Zenlea of Trillium Health Partners, University of Toronto. This initiative was funded thanks to a special call issued by the Canadian Institutes of Health Research (CIHR) and partner organizations to celebrate the 100th anniversary of the discovery of insulin.

Training to improve research on life-threatening diseases

Dr. Patricia Fontela’s collaboration with Drs. Dominique Piquette (Sunnybrook, Toronto) and Denise Jaworsky (UBC) was awarded $2.4 million from the CIHR for a program called the Life-Threatening Illness National Group (LifTING) Research Training Platform. It aims to improve research by training multidisciplinary researchers, patient and family partners, and community citizens on research methods, knowledge, skills and attitudes related to health services, interprofessional collaboration, and equity, diversity and inclusiveness (EDI).

With CHHD Program colleagues Drs. Brett Burstein, Patricia Li and Evelyn Constantin, Dr. Fontela will also take a leadership role in a Canada-wide research platform funded by the CIHR to better understand the impacts of COVID-19 on children and youth. Dr. Jesse Papenburg’s commentary introduces the Pediatric Outcomes Improvement through Coordination of Research Networks (POPCORN) platform in the central feature of this report.

Rima Slim, PhD, Meranda Nakhla, MD, M.Sc., Julia Von Oettingen, MD, PhD, M.M.Sc., FRCP, and Patricia Fontela, MD, PhD (left to right) are researchers in the Child Health and Human Development Program at the RI-MUHC
Rima Slim, PhD, Meranda Nakhla, MD, M.Sc., Julia Von Oettingen, MD, PhD, M.M.Sc., FRCP, and Patricia Fontela, MD, PhD (left to right) are researchers in the Child Health and Human Development Program at the RI-MUHC

Selected CHHD Program news links



Allen James Wilcox, Marianna Cortese, D. Robert McConnaughey, Dag Moster, Olga Basso. The limits of small-for-gestational-age as a high-risk category: European Journal of Epidemiology. 36(10): 985-991, 2021. doi: 10.1007/s10654-021-00810-z.

Valérie Courchesne, Rachael Bedford, Andrew R. Pickles, Eric Duku, Connor Morrow Kerns, Pat L. Mirenda, Teresa Ann Bennett, Stelios Georgiades, Isabel M. Smith, Wendy J. Ungar, Tracy Vaillancourt, Anat Zaidman-Zait, Lonnie Zwaigenbaum, Peter Szatmari, Mayada Elsabbagh, pathways team. Non-verbal IQ and change in restricted and repetitive behavior throughout childhood in autism: a longitudinal study using the Autism Diagnostic Interview-Revised: Molecular Autism 12(1), 2021. doi:10.1186/s13229-021-00461-7.

Yasser M. Kazzaz, Musaed Alharbi, Kim C. Nöel, Caroline. Quach, Douglas F. Willson, Elaine Gilfoyle, James Dayre McNally, Shauna O'Donnell, Jesse Papenburg, Jacques M. Lacroix, Patrícia Scolari Fontela. Evaluation of antibiotic treatment decisions in pediatric intensive care units in Saudi Arabia: A national survey: Journal of Infection and Public Health 14(9): 1254-1262, 2021. doi: 10.1016/j.jiph.2021.08.021.

Julie Bergeron, Rachel Massicotte, Stephanie A. Atkinson, Alan D. Bocking, William D. Fraser, Isabel Fortier. Cohort Profile: Research Advancement through Cohort Cataloguing and Harmonization (ReACH): International journal of epidemiology 50(2): 396-397, 2021. doi: 10.1093/ije/dyaa207.

Hilda E. Fernandez, Bethany J. Foster. Long-Term Care of the Pediatric Kidney Transplant Recipient: Clinical journal of the American Society of Nephrology: CJASN 17(2): 296-304, 2022. doi: 10.2215/CJN.16891020.

Catherine Goudie, Leora Witkowski, Noelle M. Cullinan, Lara Reichman, Ian Schiller, Melissa Tachdjian, Linlea Armstrong, Katherine A. Blood, Josée Brossard, Ledia Brunga, Chantel Cacciotti, Sonia Cellot, Mary Egan Clark, Catherine M. Clinton, Hallie Colti. Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes: JAMA Oncology 7(12): 1806-1814, 2021. doi: 10.1001/jamaoncol.2021.4536.

Mariya V. Cherkasova, Arunima Roy, Brooke S.G. Molina, Gabrielle Scott, Gabrielle Weiss, Russell A. Barkley, Joseph B. Biederman, Mai Uchida, Stephen P. Hinshaw, Elizabeth B. Owens, Lily T. Hechtman. Review: Adult Outcome as Seen Through Controlled Prospective Follow-up Studies of Children With Attention-Deficit/Hyperactivity Disorder Followed Into Adulthood: Journal of the American Academy of Child and Adolescent Psychiatry 61(3): 378-391, 2022. doi: 10.1016/j.jaac.2021.05.019.

Amel Chaouch, Johannes Berlandi, Carol C.L. Chen, Felice Frey, Shireen Badini, Ashot S. Harutyunyan, Xiao CHEN, Brian Krug, Steven Hébert, Astrid Jeibmann, Chao Lu, Claudia L. Kleinman, Martin Hasselblatt, Paul F. Lasko, Margret Shirinian, Nada Jabado. Histone H3.3 K27M and K36M mutations de-repress transposable elements through perturbation of antagonistic chromatin marks: Molecular Cell 81(23): 4876-4890.e7, 2021. doi: 10.1016/j.molcel.2021.10.008.

Brian Krug, Ashot S. Harutyunyan, Shriya Deshmukh, Nada Jabado. Polycomb repressive complex 2 in the driver's seat of childhood and young adult brain tumours: Trends in Cell Biology 31(10): 814-828, 2021. doi: 10.1016/j.tcb.2021.05.006.

Kenneth A. Myers, Ingrid Scheffer. Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies: Annual review of pharmacology and toxicology 62: 641-662, 2022. doi: 10.1146/annurev-pharmtox-052120-084449.

Edrian Bumanlag, Eleonora Scarlata, Cristian O'Flaherty. Peroxiredoxin 6 Peroxidase and Ca2+-Independent Phospholipase A2 Activities Are Essential to Support Male-Mouse Fertility: Antioxidants 11(2), 2022. doi: 10.3390/antiox11020226.

Yan Luan, Daniel Leclerc, Marta Cosín-Tomás, Olga V. Malysheva, Brandi L. Wasek, Teodoro G. Bottiglieri, Marie A. Caudill, Rima R. Rozen. Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-Specific Placental Transcription Changes: Molecular Nutrition and Food Research 65(14), 2021. doi: 10.1002/mnfr.202100197.





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