CFRI researchers and their collaborators have discovered a new genetic mutation in a six-year-old-girl. Their finding solved a medical mystery for the young girl and her family. She was being treated at BC Children’s Hospital for developmental delays and other serious health problems that doctors were unable to explain. The medical team’s recently published findings may provide answers and eventually lead to improved therapies for other children who have similar symptoms and don’t respond to current treatments.
My main area of interest is neuromuscular disorders. I have a particular focus on Duchenne Muscular Dystrophy (DMD). Neuromuscular disorders involve many disciplines. A greater understanding of genetics is leading to greater knowledge and the potential for more definitive treatment for neuromuscular disorders in childhood.
We are now developing a Canadian Registry of children with DMD and with congenital myotonic dystrophy, and are now involved with clinical trials of new potential treatments.
In view of the fact that these children are now living into adulthood, we are also establishing a protocol for a natural history study of our affected young adults. We wish to ensure we can provide the most appropriate management.
Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J
Canadian Paediatric Neurology Workforce Survey and Consensus Statement.
Doja A, Orr SL, McMillan HJ, Kirton A, Brna P, Esser M, Tang-Wai R, Major P, Poulin C, Prasad N, Selby K, Weiss SK, Yeh EA, Callen DJ
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF
Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.
Horvath GA, Selby K, Poskitt K, Hyland K, Waters PJ, Coulter-Mackie M, Stockler-Ipsiroglu SG
A population-based study of dystrophin mutations in Canada.
Mah JK, Selby K, Campbell C, Nadeau A, Tarnopolsky M, McCormick A, Dooley JM, Kolski H, Skalsky AJ, Smith RG, Buckley D, Ray PN, Yoon G
Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
Spacey SD, Szczygielski BI, Young SP, Hukin J, Selby K, Snutch TP
Cerebrospinal fluid free choline in movement disorders of paediatric onset.
Pranzatelli MR, Hanin I, Tate E, Kindel G, Bergin A, Brown CM, Habersang P, Habersang R, Mack KJ, Rosenbaum B, Selby KA, Vasconcellos M
MIT Study – A Retrospective Review of the Diagnostic Outcome of Skeletal Muscle Biopsy for Suspected Mitochondrial Disease at BC Children's Hospital
The study includes a 5 year retrospective chart review of the diagnostic outcome of pediatric patients who have undergone a skeletal biopsy for a suspected mitochondrial disease at BC Children's between January 1998 and June 2003.
The objectives of the study include:
To evaluate the diagnostic outcome of patients who have undergone a skeletal biopsy for a suspected mitochondrial disease for quality assurance purposes
To determine the number of patients that received a diagnosis of mitochondrial disease using other diagnostic tests
To identify patients’ factors that predict a higher skeletal muscle biopsy yield
To establish detailed demographic and clinical patient database
PTC-DMD Study - A Phase 2b Efficacy and Safety Study of PTC124 in Subjects with Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy
The development of PTC124 offers a novel therapeutic approach to the treatment of genetic disorders: coupling the identification of patients with a specific type of genetic defect with a small-molecule therapy that has the potential to correct the phenotypic expression of that genetic defect.
We hypothesize that the mean change in 6MWD from Day 1 (Visit 3 – Baseline) to Week 48 (Visit 11 – End-of-Treatment) will be 30 meters longer in at least one of the PTC124 arms than in the placebo arm. The primary objective of this study is to evaluate the ability of PTC124 to improve ambulation as assessed by change in 6MWD.Honours & Awards
The Laura MacRae Award, 1995