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photo of Kym Boycott with her group of researchers

Kym Boycott photo of Kym Boycott
Senior Scientist, CHEO Research Institute
Clinical Geneticist, Department of Genetics, CHEO
Associate Professor, Department of Pediatrics, Faculty of Medicine,
University of Ottawa
Co-Chair, International Rare Disease Research Consortium (IRDiRC),
Diagnostics Committee
613-737-7600 Ext. 4139
Research Practice Areas:
Current Research:

Dr. Boycott’s research, bringing together clinical medicine with basic science, is focused on elucidating the molecular pathogenesis of rare inherited neurological diseases using next-generation sequencing approaches. She is the Lead Investigator of the nation consortium FORGE Canada (‘Finding of Rare Disease Genes in Canada’) project which is investigating the molecular etiology of almost 200 rare pediatric diseases. Related to translating these discoveries to the clinic, Dr. Boycott is interested in facilitating incorporation of next-generation sequencing approaches to routine diagnostics and patient care.

Research Team:

Kim Boycott is a Medical Geneticist at the Children's Hospital of Eastern Ontario (CHEO) and Clinician Scientist at the CHEO Research Institute. She is an Associate Professor and holds a Tier II Research Chair in Neurogenetics from the Faculty of Medicine at the University of Ottawa. She completed her PhD, MD and FRCPC training in Medical Genetics at the University of Calgary. Dr. Boycott's research, bringing clinical medicine to basic research, is focused on elucidating the molecular pathogenesis of rare genetic diseases using next-generation sequencing approaches. She has been the recipient of the Canadian Institute of Health Research Clinical Investigatorship Award from the Institute of Genetics, the SickKids Foundation Young Investigator Award and the Basil O' Connor March of Dimes Young Investigator Award. She was Lead Investigator of the Genome Canada and CIHR funded 'Finding of Rare Disease Genes in Canada' (FORGE Canada) project, which investigated the molecular etiology of more than 250 rare pediatric diseases, identifying the cause in more than 55% and making 67 novel disease gene discoveries. She currently leads the Genome Canada and CIHR funded large-scale project 'Enhanced CARE for RARE Genetics Diseases in Canada', which is focused on improving the clinical care of patients and families by expanding and improving the diagnosis and treatment of rare diseases. Dr. Boycott moves the international rare disease agenda forward through her role as the Chair of the Diagnostics Committee of the International Rare Disease Research Consortium.

Sample Publications:
Aldinger KA, Mosca SJ, Tetreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, Parboosingh JS, Innes AM, Doherty D. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet 2014;95(2):227-234.
Beaulieu CL, Samuels ME, Ekins S, McMaster CR, Edwards AM, Krainer AR, Hicks GG, Frey BJ, Boycott KM, Mackenzie AE. A generalizable pre-clinical research approach for orphan disease therapy. Orphanet Journal of Rare Disease, 2012. Vol. 7, 39.

Rivière JB, Mirzaa GM, O’Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GMS, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O’Driscoll M, Shendure J, Graham Jr JM, Boycott KM & Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics, Vol. 44, Issue 8, 934-940.

Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. American Journal of Human Genetics, 2012. Vol. 90, Issue 2, 369-77.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM (2012). Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome. American Journal of Human Genetics, Vol. 90, Issue 2, 308-313.

Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium, Chitayat D, Boycott KM, Weaver DD, Jones SJ (2012). Mutations in EZH2 Cause Weaver Syndrome. American Journal of Human Genetics, Vol. 90, Issue 1, 110-118.

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM (2011). TMEM237 is Mutated in Individuals With a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone.
American Journal of Human Genetics, Vol. 89, Issue 6, 713-730.

Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T (2011). Mutations in UBQLN2 Cause Dominant X-linked Juvenile and Adult-Onset ALS and ALS/Dementia. Nature, Vol. 477, Issue 7363, 211-215.

Carter MT, Boycott KM (2011). Microcephaly-capillary Malformation Syndrome: a Story of Rapid Emergence of a New Recognizable Entity. American Journal of Human Genetics A, Vol.155A, Issue 9, 2078-2079.

Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H; FORGE Canada Consortium, Michaud JL,
Samuels ME (2011). Mutations in NOTCH2 in Families With Hajdu-Cheney Syndrome. Human Mutation, Vol. 32, Issue 10,1114-1117.

Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE (2011). 17p13.3 Microduplications are Associated With Split-hand/foot Malformation and Long-bone Deficiency (SHFLD). European Journal of Human Genetics, Vol. 19, Issue 11,1144-1151.
Holter S, Pollett A, Zogopoulos G, Kim H, Schwenter F, Asai K, Gallinger S, Clendenning M, Steinbach G, Jacobson A, Boycott KM (2011). Hepatic Adenomas Caused by Somatic HNF1A Mutations in Children With Biallelic Mismatch Repair Gene Mutations. Gastroenterology. Vol. 140, Issue 2, 735-736.

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