Jillian Parboosingh, PhD, Medical Genetics University of Calgary

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Dr. Jillian Parboosingh

BSc, MSc, PhD
Assistant Professor, Department of Medical Genetics
Tel: (403) 955-2267
Fax: (403) 955-7264
Email:

Research Interests / Projects
My main research focus lies in the characterization and mapping of genes causing autosomal recessive disorders in the Hutterite population. Ongoing in the Department and other genetic centres is the clinical characterization and recruitment of patients with clinically and/or molecularly novel disorders within the Hutterite population. We have successfully mapped a number of these conditions using homozygosity mapping and are sequencing candidate genes to identify the disease-causing gene. This approach was successfully applied to the identification of the mutation causing BBS, a genetically heterogeneous condition with, at the time, 11 known loci, in the Hutterite population. Identification of the mutation has since led to the clinical confirmation of BBS in additional patients. Subsequent to homozygosity mapping in four individuals with a novel neurodevelopmental disorder, we have identified a putative missense mutation in a gene that plays a role in mRNA metabolism and export. Functional studies are underway to confirm pathogenicity.

Homozygosity mapping is a proven research tool for the mapping of autosomal recessive conditions in isolated populations and consanguineous families. In the next year, Drs. Francois Bernier and Mike Innes, along with other clinical colleagues, and I will be exploring the utility of homozygosity mapping in clinical practice. In consanguineous families or families from isolated populations with autosomal recessive disorders, this approach will be used to map either novel genes or identify the gene locus in conditions with genetic heterogeneity.

Publications

1. Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalno S, Nicholson L, Stabley DL, Sol-Church K (2008). Costello syndrome phenotype associated with novel germline HRAS mutations: An Attenuated Phenotype? Am. J. Med. Genet. A 146:683-690.

2. Gillan T, Davies C, Innes M, Miller JM, Graham L, Chernos J, Bridge PJ, Parboosingh JS (2008). An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne Muscular Dystrophy carrier. Am. J. Med. Genet. A;146(8):1067-71.

3. Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, MøllerLB, Innes AM. (2008). Clinical Genetics and the Hutterite population: A review of Mendelian disorders. Am. J. Med. Genet. A;146(8):1088-98.

4. Wilton SB, Anderson TJ, Parboosingh JS, Bridge PJ, Exner DV, Forrest D, Duff HJ (2008). Polymorphisms in Multiple Genes are Associated with Resting Heart Rate in a Stepwise Allele-Dependent Manner. Heart Rhythm. 5(5):694-700.

5. Herz J, Boycott KM, Parboosingh JS (2008). “Devolution” of Bipedalism. Proc. Natl. Acad. Sci. 105(21):E25

6. Boycott KM, Parboosingh JS (2008). VLDLR-associated cerebellar hypoplasia. GeneReviews.

7. Boycott KM, Bonnemann C, Neuert S, Beaulieu C, Scott J, Parboosingh JS (2009). Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome). Journal of Child Neurology. Epub March 30, 2009.

8. Kaput J, et al.(2009). Planning the Human Variome Project: the Spain Report. Hum Mutat.30(4):496-510.

9. Ferrier RA, Lowry RB, Lemire EG, Stoeber GP, Howard J, Parboosingh JS (2009). Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy. Am. J. Med. Genet. A. 149A(12):2871-3.

Research Funding

Alberta Children’s Hospital Foundation (2008)

$47, 293

A Pilot Study to Investigate the Role of Serotonin Transporter Gene (5-HTT) and 5-HTR1A Serotonin Receptor Polymorphisms in Post-Concussion Syndrome

Co-Investigator

New Investigator Research Award, Hospital for Sick Kids (2009 – 2012)

$300, 000

Identification of a novel gene for Joubert syndrome; a mid-hindbrain malformation

Co-Investigator

Alberta Children’s Hospital Foundation (2009)

$49,816

Microarray based SNP mapping of autosomal recessive disorders: evaluating the impact on molecular diagnosis and the ability to map and identify novel genes.

Co-PI

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