YEAR IN REVIEW: Child Health and Human Development Program (CHHD) - Research Institute of the McGill University Health Centre

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null YEAR IN REVIEW: Child Health and Human Development Program (CHHD)

RESEARCH HIGHLIGHTS

Drs. Meranda Nakhla and Nada Jabado — **Drs. Meranda Nakhla** and Nada Jabado

Toward better care for diabetic children

Dr. Meranda Nakhla and colleagues revealed shortfalls in diagnosis of type 1 diabetes in Quebec children, barriers in transition from pediatric to adult care, and mental health problems that follow young diabetic patients.

Genomic technologies empower cancer research

Dr. Nada Jabado co-led a Nature study that used single-cell sequencing to reveal early origins of childhood brain cancer.

With RI-MUHC and international colleagues, she also identified a potential target for immunotherapy treatments.

Pilot study for gene therapy offers hope

Dr. John Mitchell enrolled the first Canadian patient in a clinical trial using gene therapy to treat a rare metabolic disease, Glycogen storage disease type I.

MUHC patient Samuel Gauthier, Dr. John Mitchell and team — MUHC patient **Samuel Gauthier, Dr. John Mitchell** and team

SELECTED PUBLICATIONS

Julie Boucquemont, Ahna L.H. Pai, Vikas R. Dharnidharka, Diane Hébert, Nataliya Zelikovsky, Sandra G. Amaral, Susan L. Furth, Bethany J. Foster. Association between day of the week and medication adherence among adolescent and young adult kidney transplant recipients. American Journal of Transplantation 20(1):274-281, 2020.

Maria C. Vladoiu, Ibrahim El-Hamamy, Laura K. Donovan, Hamza Farooq, Borja L. Holgado, Yogi Sundaravadanam, Vijay Ramaswamy, Liam D. Hendrikse, Sachin Kumar, Stephen C. Mack, John J. Y. Lee, Vernon Fong, Kyle Juraschka, David Przelicki, Antony Michealraj, Patryk Skowron, Betty Luu, Hiromichi Suzuki, A. Sorana Morrissy, Florence M. G. Cavalli, Livia Garzia, Craig Daniels, Xiaochong Wu, Maleeha A. Qazi, Sheila K. Singh, Jennifer A. Chan, Marco A. Marra, David Malkin, Peter Dirks, Lawrence Heisler, Trevor Pugh, Karen Ng, Faiyaz Notta, Eric M. Thompson, Claudia L. Kleinman, Alexandra L. Joyner, Nada Jabado, Lincoln Stein, Michael D. Taylor. Childhood cerebellar tumours mirror conserved fetal transcriptional programs. Nature 572: 67–73, 2019.

Maryam Oskoui, Tamara M. Pringsheim, Yolanda F. Holler-Managan, Sonja B. Potrebic, Lori L. Billinghurst, David S. Gloss, Andrew D. Hershey, Nicole Licking, Michael K. Sowell, M. Cristina C. Victorio, Elaine M. Gersz, Emily Leininger, Heather Zanitsch, Marcy E. Yonker, Kenneth J. Mack. Practice guideline update summary: Acute treatment of migraine in children and adolescents: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Headache Society. Neurology 93(11):487-499, 2019.

Meaghan Boileau, Margret Shirinian, Tenzin Gayden, Ashot S. Harutyunyan, Carol C.L. Chen, Leonie G. Mikael, Heather M. Duncan, Andrea L. Neumann, Patricia Arreba-Tutusaus, Nicolas de Jay, Michele P. Zeinieh, Katya Rossokhata, Yelu Zhang, Hamid Nikbakht, Carine Mouawad, Radwan Massoud, Felice Frey, Rihab R. Nasr, Jean El- Sabban, Claudia L. Kleinman, Rami A.R. Mahfouz, Mark D. Minden, Nada Jabado, Ali Abdul Hamid Bazarbachi, Kolja Eppert. Mutant H3 histones drive human pre-leukemic hematopoietic stem cell expansion and promote leukemic aggressiveness Nature Communications 10(1), 2019.

Meihang Li, Sihua Wang, Kuangfeng Xu, Yang Chen, Qi Fu, Yong Gu, Yun Shi, Mei Zhang, Min Sun, Heng Chen, Xiuqun Han, Yangxi Li, Zhoukai Tang, Lejing Cai, Zhiqiang Li, Yongyong Shi, Tao Yang, Constantin Polychronakos. High prevalence of a monogenic cause in han Chinese diagnosed with type 1 diabetes, partly driven by nonsyndromic recessive wfs1 mutations. Diabetes 69(1):121-126, 2020.

Noelle Cullinan, Anita Villani, Stéphanie Mourad, Gino Rene Somers, Lara Reichman, Kalene van Engelen, Derek Stephens, Rosanna A. Weksberg, William David Foulkes, David Malkin, Ronald M. Grant, Catherine Goudie. An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor. International Journal of Cancer 146(4): 1010-1017, 2020.

Pierre Vabres, Arthur Sorlin, Stanislav S. Kholmanskikh, Bénédicte Demeer, Judith St.-Onge, Yannis Duffourd, Paul Kuentz, Jean Benoît Courcet, Virginie Carmignac, Philippine Garret, Didier Bessis, Odile Boute, Anthony J. Bron, Guillaume Captier, Esther Carmi, Bernard L. Devauchelle, David Geneviève, Catherine Gondry-Jouet, Laurent Guibaud, Arnaud Lafon, Michèle Mathieu-Dramard, Julien Thévenon, William B. Dobyns, Geneviève Bernard, Satyamaanasa Polubothu, Francesca Faravelli, Veronica A. Kinsler, Christel Thauvin, Laurence Faivre, Margaret Elizabeth Ross, Jean-Baptiste Rivière. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics 51(10):1438-1441, 2019.

Yassemine Khawajkie, Nawel Mechtouf, Ngoc Minh Phuong Nguyen, Kurosh Rahimi, Magali Bréguet, Jocelyne Arseneau, Brigitte M. Ronnett, Lori Hoffner, Felicia Lazure, Marjolaine Arnaud, Fabrice Peers, Liane Tan, Basam Abu Rafea, Mónica Aguinaga, Neil Stuart Horowitz, Asangla Ao, Seang Lin Tan, Richard, Nicolas Brown, William M. Buckett, Urvashi Surti, Karine Hovanes, Trilochan Sahoo, Philippe G. Sauthier, Rima Slim. Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes. Modern Pathology 33(5):880-892, 2020.