Dr Kathryn Selby is a pediatric neurologist who is involved in acute and chronic clinical care as well as academic and research commitments in neurological and neuromuscular disorders.
Kathryn trained in St. Andrews and Manchester Universities in the UK and subsequently at the University of British Columbia and is the medical director of the pediatric neuromuscular program of British Columbia and the Yukon.
Her main areas of specialist interest are pediatric neuromuscular disorders including spinal muscular atrophy and Duchenne muscular dystrophy and she is involved with neurogenetics and knowledge translation. She plays an active role in medical education and was the former program director for the pediatric neurology program at UBC.
She has also partnered with Doctors of BC and has been involved in the development of long-term care plans for muscle specific disorders in the challenging area of transition of care from pediatric to adult care in children with complex neurological and neuromuscular disorders.
She is actively involved with clinical trials in neuromuscular disorders and in patient advocacy.
In the NMD4C network Kathryn is involved with developing and updating of clinical care guidelines and working with the team for implementation and dissemination and piloting of these guidelines. She is also developing a patient advocacy training module and will support knowledge translation within the neuromuscular community.
Tarailo-Graovac, M, Zahir, FR, Zivkovic, I, Moksa, M, Selby, K, Sinha, S et al.. De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. Mol Genet Genomic Med. 2019.7 (10)e00961 PMID:31475481
Deguise, MO, Baranello, G, Mastella, C, Beauvais, A, Michaud, J, Leone, A et al.. Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Ann Clin Transl Neurol. 2019.6 (8)1519-1532 PMID:31402618
Haijes, HA, de Sain-van der Velden, MGM, Prinsen, HCMT, Willems, AP, van der Ham, M, Gerrits, J et al.. Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation. Mol. Genet. Metab. 2019.127 (4)368-372 PMID:31311714
Demos, M, Guella, I, DeGuzman, C, McKenzie, MB, Buerki, SE, Evans, DM et al.. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy. Front Neurol. 2019.10 434 PMID:31164858
Rodríguez Cruz, PM, Cossins, J, Estephan, EP, Munell, F, Selby, K, Hirano, M et al.. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain. 2019.142 (6)1547-1560 PMID:31081514
Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peltz, SW, Ataluren Phase 2b Study Group et al.. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy. Neurology. 2018.91 (13)e1215-e1219 PMID:30135256
Wei, Y, McCormick, A, MacKenzie, A, O'Ferrall, E, Venance, S, Mah, JK et al.. The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities. Paediatr Child Health. 2018.23 (1)20-26 PMID:29479275
Finkel, RS, Mercuri, E, Darras, BT, Connolly, AM, Kuntz, NL, Kirschner, J et al.. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N. Engl. J. Med. 2017.377 (18)1723-1732 PMID:29091570
Victor, RG, Sweeney, HL, Finkel, R, McDonald, CM, Byrne, B, Eagle, M et al.. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology. 2017.89 (17)1811-1820 PMID:28972192
Thibodeau, ML, Peters, CH, Townsend, KN, Shen, Y, Hendson, G, Adam, S et al.. Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. Am. J. Med. Genet. A. 2017.173 (11)3087-3092 PMID:28898540