Our Research
Welcome to the Costain Lab! Our Lab uses advanced genetic technologies to facilitate diagnosis and discovery in children with suspected undiagnosed genetic diseases. Priority research populations include children with unexplained medical complexity and severe neurological impairment, and children with genetic or unexplained epilepsy. We are also pioneering new approaches for classifying and interpreting rare genetic variation, and working to support precision therapy development.
Selected Publications
For a complete list of Costain Lab publications, please visit PubMed.
- Haque B*, Guirguis G*, Curtis M, Mohsin H, Walker S, Morrow MM, Costain G. A comparative medical genomics approach may facilitate the interpretation of rare missense variation. J Med Genet. 2024 Mar. doi:10.1136/jmg-2023- 109760. PMID: 38508706.
- Haque B, Cheerie D, Birkadze S, Xu AL, Nalpathamkalam T, Thiruvahindrapuram B, Walker S, Costain G. Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue. Eur J Hum Genet. 2023 Nov. doi: 10.1038/s41431-023-01495-6. PMID: 38012313.
D’Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. PMID: 37596007
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Trio RNA sequencing in a cohort of medically complex children. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28.
PMID: 36990084.Haque B, Khan T, Ushcatz I, Curtis M, Pan A, Wu W, Orkin J, Costain G. Contemporary aetiologies of medical complexity in children: a cohort study. Arch Dis Child. 2023 Feb;108(2):147-149. doi: 10.1136/archdischild-2022-325094. Epub 2022 Dec 9. PMID: 36600318.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. PMID: 35851598 .
Pan A, Scodellaro S, Khan T, Ushcatz I, Wu W, Curtis M, Cohen E, Cohn RD, Hayeems RZ, Meyn MS, Orkin J, Otal J, Reuter MS, Walker S, Scherer SW, Marshall CR, Cohn I, Costain G. Pharmacogenetic profiling via genome sequencing in children with medical complexity. Pediatr Res. 2023 Mar;93(4):905-910. doi: 10.1038/s41390-022-02313-3. Epub 2022 Sep 27. PMID: 36167815.
Costain G, Liu Z, Mennella V, Radicioni G, Goczi AN, Albulescu A, Walker S, Ngan B, Manson D, Vali R, Khan M, Palaniyar N, Hill DB, Hall DA, Marshall CR, Knowles M, Zariwala MA, Kesimer M, Dell SD. Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B. Am J Respir Crit Care Med. 2022 Apr 1;205(7):761-768. doi: 10.1164/rccm.202106-1456OC. PMID: 35023825.
Costain G, Cohn RD, Scherer SW, Marshall CR. Genome sequencing as a diagnostic test. CMAJ. 2021 Oct 25;193(42):E1626-E1629. doi: 10.1503/cmaj.210549. PMID: 34697096; PMCID: PMC8562981.
Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. JAMA Netw Open. 2020 Sep 1;3(9):e2018109. doi: 10.1001/jamanetworkopen.2020.18109. PMID: 32960281; PMCID: PMC7509619.
Costain G, Ghosh MC, Maio N, Carnevale A, Si YC, Rouault TA, Yoon G. Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome. Brain. 2019 May 1;142(5):1195-1202. doi: 10.1093/brain/awz072. PMID: 30915432; PMCID: PMC6487337.
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8. PMID: 30293988.
Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16. PMID: 29453418; PMCID: PMC5945683.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. PMID: 28771251; PMCID: PMC5895460.
Funders
Our research would not be possible without the generous support of our funders!
Meet Our Team
Dr. Gregory Costain, MD, PhD
Dr. Costain is a physician-scientist who specializes in the diagnosis of rare genetic conditions in children. He joined the Division of Clinical and Metabolic Genetics at SickKids as a staff physician in 2020 after completing his residency training at the University of Toronto.
He runs the specialized Genetics of Epilepsy and severe Neurological Impairment Clinic (GENIC) at SickKids. He is also a Scientist-Track Investigator in the Genetics and Genome Biology program at SickKids Research Institute, and Assistant Professor at the University of Toronto.
His research program is focused on understanding the causes and consequences of rare variation in the human genome. His lab uses genome sequencing to discover new disease genes and genotype-phenotype associations, in a setting of an undiagnosed paediatric disease program.
Staff
Jashanpreet Sidhu
Clinical Research Coordinator
Jashanpreet Sidhu, Clinical Research Coordinator
Jashanpreet completed her undergraduate degree at the University of Ottawa in Biomedical Sciences and has joined the Costain Lab at SickKids as a Clinical Research Project Coordinator. Throughout her undergraduate degree, she was involved in research projects that taught her a plethora of skills which she is making use of in her current role. She is the lead coordinator for Gene-STEPS study and helps facilitate multiple other studies within Costain Lab. In her spare time, she enjoys reading, learning different Calligraphy Styles and pottery.
Nicole Liang
Genetic Counsellor
Nicole Liang
Nicole is an ABGC-certified genetic counsellor who completed her genetic counselling training at the University of Toronto. She is a research genetic counsellor working with the Gene-STEPS study and also provides genetic counselling as part of the Paediatric Ehler-Danlos clinic and Epilepsy clinics at the Hospital for Sick Children. Her academic interests include advancing equitable access to genomic technologies for pediatric populations and participating in variant curation activities within ClinGen. In her spare time, she enjoys photography and powerlifting.
Bushra Haque, MSc
Bioinformatician
Bushra Haque, Bioinformatician
Bushra is a graduate of the Molecular Genetics program at the University of Toronto and a former graduate student in the Costain lab. Her graduate research involved leveraging widely available but previously siloed genomic databases to improve the interpretation and classification of germline missense variants. Currently, she is leveraging her bioinformatics skills to various ongoing projects within the lab, specializing in the analysis, automation, and management of sequencing variant data. Outside of the lab, you’ll find her creating science-focused animated YouTube videos or building intricate lego sets.
Aiyana Kaplan
Clinical Research Project Coordinator
Aiyana Kaplan
Aiyana is a Clinical Research Project Coordinator at the Costain lab. Before joining the lab, Aiyana completed her Honours Bachelor of Science at the University of Toronto, double majoring in Physiology and HMB: Fundamental Genetics and its Applications. Aiyana is passionate about implementing precision medicine into the Canadian healthcare system and looks forward to educating children and their families about the ongoing Translational Genomics research studies at SickKids. In her free time, Aiyana enjoys spending time with friends and family and exploring the city with her cockapoo, Leo.
Denese Henry
Administrative Assistant
Denese Henry
Administrative Assistant
Clinical and Metabolic Genetics
The Hospital for Sick Children
555 University Ave.
Toronto, ON
M5G 1X8
Students
David Cheerie
Graduate Student
David Cheerie
David is a 2nd year graduate student in the Costain Lab pursuing a Master of Science degree at the University of Toronto’s Molecular Genetics program. Prior to this, David obtained his Bachelor of Science in Biochemistry from McMaster University. His project seeks to define clinical and molecular genetic principles that can be used for screening rare genetic diagnoses for amenability to bespoke genetic therapy development. In his free time, David enjoys bike riding and trying new food spots.
Ali Almail
Medical Student
Ali Almail, Medical Student
Ali is a 3rd year medical student at the Temerty Faculty of Medicine (University of Toronto) and part of the Graduate diploma in Health Research Program. Prior to beginning his medical education, he obtained a B.A. in Genetics, Molecular, and Cellular Biology and Visual Art at Northwestern College (USA). His research interests are pretty diverse, spanning molecular genetics, phage therapy, paediatrics, and surgical developments. During his free time, he enjoys integrating science and art by creating thought-provoking drawings and paintings.
Rachel Stubits
Medical Student
Rachel Stubits, Summer Student
Rachel is a medical student at the Mississauga Academy of Medicine (University of Toronto). She is working with the Costain Lab to conduct a retrospective review of chromosomal microarray results from SickKids and CHEO, with the aim of assessing the utility of genome-wide sequencing as a first-tier clinical test. Before her medical education, she obtained an HBSc in Molecular Biology and Chemistry from the University of Toronto Mississauga. During her free time, she enjoys reading and hiking.
Rachel Oh
Medical Genetics and Genomics Resident
Rachel Oh, Genetics Resident
Rachel is a 4th year Medical Genetics and Genomics resident at the University of Toronto. She is interested in leveraging genomic technologies such as genome and RNA sequencing to improve the diagnosis and management of rare/undiagnosed genetic disorders.
Prior to residency, she completed a bachelor’s degree in Neuroscience and Molecular Biology at the University of Toronto and earned her medical degree at Queen’s University. In her spare time, she enjoys travelling and playing chess and piano.
Logan Newton
Graduate Student
Logan Newton, Rotation Student
Logan is a 1st year graduate student in the Costain Lab pursuing a Master of Science in Molecular Genetics from the University of Toronto. Prior to this, Logan obtained his Bachelor of Science in Life Sciences – Origins of Disease Specialization from McMaster University. Outside of the lab, Logan enjoys learning to cook, watching history documentaries, and scrolling Spotify to find new music.
Jimmy Nguyen
Graduate Student
Jimmy Nguyen, Rotation Student
Jimmy is a first-year graduate student in the Molecular Genetics program. His research interests include using genomic technologies to investigate the etiology of rare diseases and ways to improve the scope of genomic testing in Canada. Prior to graduate school, Jimmy worked as a Medical Laboratory Technologist at BC Children’s Hospital specializing in diagnostic molecular and cytogenetic testing. In his free time, he enjoys climbing, pottery, and cooking new recipes.
Ziyi Dai
Graduate Student
Ziyi Dai, Rotation Student
Ziyi is a first-year graduate student in the Costain Lab pursuing a PhD degree at the University of Toronto’s Molecular Genetics program. Ziyi obtained her Honours Bachelor of Science degree in Molecular Genetics from the University of Toronto. Outside the lab, Ziyi is always listening to music and reading novels.
Sean Williams
Practicum Student
Sean Williams, Practicum Student
Sean is a Master of Health Science student in the Medical Genomics program at the University of Toronto. He completed his Honours Bachelor of Science at the University of Toronto as well, where he double majored in Health & Disease and Genome Biology with a minor in Immunology. Through his studies, Sean has combined his interest in understanding rare and complex disorders and exploring new therapeutic avenues through the genomic lens. In his free time, Sean is an avid comic book fan and enjoys listening to new music and drawing.
Alumni
Madeline Campbell
Madeline Campbell, Clinical Research Project Coordinator
During her time at SickKids, Madeline was involved with the Complex Care, Gene-STEPS, Rare Diseases, and SickKidsSeq (Genome Clinic) studies. Prior to joining the team, Madeline received an Honours Bachelor of Science from Cape Breton University and a Master of Science in Interdisciplinary Medical Sciences from Western University. Throughout her graduate studies, she had the opportunity to work in various research positions where she created initiatives aiming to improve the clinical care and accessibility of healthcare. Madeline is now studying at Dalhousie’s Schulich School of Law in the JD program.
Amy Pan
Amy Pan, Summer Student
Amy is working on a project to investigate the role for pharmacogenetic profiling in children with medical complexity. She is a fourth-year undergraduate student in Neuroscience and Psychology at the University of Toronto and is interested in the genetics of neurodevelopmental disorders. In the future, she hopes to pursue a career in genetic counselling.
Jade Zhang
Jade Zhang, Undergraduate Student
Jade is a fourth-year student at the University of Toronto specializing in fundamental genetics and its applications and majoring in genome biology. She hopes to pursue a career in genetics or biotechnology to help expand the accessibility of these fields. Outside of the lab, you can find Jade at New College running orientation or tucked away watching an old show and reading a new book.
George Guirguis
George Guirguis
George is a Master of Health Science candidate in the Medical Genomics program at the University of Toronto. He completed his Bachelor of Science (Honours) in Nutritional Biochemistry at Memorial University of Newfoundland. His honours project investigated the effects of exercise and post-exercise meals on the lipid profile of red blood cells. During his undergraduate studies, George developed a passion for the field of genetics wished to further pursue and apply it to advance personalized medicine. In his free time, George enjoys hiking, reading, and is a licensed pilot.
Tayyaba Khan
Tayyaba Khan, Research Coordinator
Tayyaba worked as a Research Coordinator at the Costain Lab for two years and was primarily involved with the Complex Care Genome study, which investigates the role of whole genome sequencing in children with medical complexity. Prior to joining the team, Tayyaba received a Master of Public Health from the University of Toronto, and worked in Medical Communications where she gained experience developing scientific publications as well as research materials for clinical trials. She is now a Clinical Operations Lead at Roche.
Alyssa Joynt
Alyssa Joynt, Summer Student
As a 2020 and 2021 summer student in the Costain Lab, Alyssa had the opportunity to be involved in a number of projects, including the compilation of a Resource Guide for families that have children with rare genetic diseases. She also authored a manuscript now published in the Journal of Paediatrics & Child Health. Before joining the team, Alyssa was involved in writing a single patient case study currently under review, and is a co-author of the Nature Medicine paper Locoregional delivery of CAR T cells to the cerebrospinal fluid for treatment of metastatic medulloblastoma and ependymoma. Alyssa’s undergraduate studies were in Life Sciences and English Language and Literature at Queen’s University in Kingston, Ontario. She is now pursuing genetic counselling!
Wendy Wu
Wendy Wu, Summer Student
Wendy recently completed her third year in a dual degree in Biology and Mathematics at Queen’s University. She is passionate about technology and its emerging roles in the health-care sector and is heavily involved in organizations that aim to educate and provide resources to those interested in coding and Machine Learning. Her professional goals are to help reduce the gaps between data and research, and to pursue further education in Biomedical Engineering to integrate novel technologies such as AI/Machine Learning into current practices within the realm of genetics.
Meredith Curtis
Meredith Curtis, Laboratory Specialist
Meredith worked as a research coordinator at the Costain Lab while pursuing her Master’s in Medical Genomics at the University of Toronto. She is now a Laboratory Specialist within Paediatric Laboratory Medicine at the Hospital for Sick Children! Her interests lie in precision medicine, genome variant analysis, translational genomics, and scientific communication.
Collaborators
Contact Us
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Address
The Costain Lab
Genetics and Genome Biology Program
SickKids Research Institute
686 Bay Street
Toronto, ON, Canada
M5G 0A4