Jillian Parboosingh, PhD, Medical Genetics University of Calgary

Links Medical Genetics University of Calgary

Faculty Education / Training Medical Genetics Services Medical Genetics Research Links

Dr. Jillian Parboosingh

BSc, MSc, PhD
Assistant Professor, Department of Medical Genetics
Tel: (403) 955-2267
Fax: (403) 955-7264
Email: jillian.parboosingh@albertahealthservices.ca

Research Interests / Projects

One of my current research focuses lies in the characterization and mapping of the genes causing autosomal recessive disorders in the Hutterite population. Funding was obtained to identify the genes involved in two novel neurodevelopmental disorders, which were recently clinically characterized by geneticists within the Department. The gene causing one of the disorders was successfully mapped; further refinement of the critical region and characterization of the causative gene within this region is the focus of graduate student’s thesis.

Additional work in this area has benefited substantially from the recruitment of Patrick Frosk, PhD, the 2006 recipient of the Bennett Jones Fellowship award. Dr. Frosk will be working on the clinical and molecular characterization of Joubert syndrome related disorder and nephronophthesis in the Hutterites. The clinical characterization and recruitment of patients with other clinically and/or molecularly novel disorders within the Hutterite population is ongoing in the Department and other genetic centers.

This was aided substantially by the symposium “Genetics and Healthcare in the Hutterite Community” that we organized in Sept. 2006 bringing together geneticists, other clinicians and researchers with an interest in the genetics and healthcare of the Hutterite population. Recruitment of patients for additional studies in the area of cardiovascular and cerebrovascular disease continued with the objective of identifying genetic risk factors.

Publications

1. Toth C, Dunham C, Suchowersky O, Parboosingh J, Brownell K (2007). Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2. Muscle Nerve 35(2):259-64.

2. Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP. (2007). Cytogenetic and molecular characterization of a de novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis. Clinical Dysmorphology. 16(4):253-6.

3. Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah J, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM (2007). Meckel syndrome in the Hutterite population is a novel Joubert-related cerebello-oculo-renal syndrome. Am. J. Med. Genet. 143(15):1715-25.

4. Gripp KW, Innes AM, Gillan TL, Parboosingh JS, Davies C, Axelrad ME, Leonard NJ, Lapointe M, Doyle D, Catalno S, Nicholson L, Stabley DL, Sol-Church K (2007). Costello syndrome phenotype associated with novel germline HRAS mutations. AJMG. Accepted.

5. Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP (2006). Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J. Med Gen. 43(5):385-93.

6. Yunker LM, Parboosingh JS, Conradson HE, Faris P, Bridge PJ, Buithieu J, Title LM, Charbonneau F, Verma S, Lonn EV, Anderson TJ (2006). The effect of iron status on vascular health. Vascular Medicine 11:85-91.

7. Simard J, Dumont M, Moisan A-M, Gaborieau V, Vezina H, Durocher F, Chiquette, J, Plante M, Avard D, Besette P, Brousseau C, Dorval M, Godard B, Houde L, Joly Y, Lajoie M-A, Leblanc G, Lepine J, Lesperance B, Malouin H, Parboosingh J, Pichette R, Provencher L, Rheaume J, Sinnett D, Samson C, Simard J-C, Tranchant M, Voyer P, INHERIT BRCAs, Easton D, Tavtigian SV, Knoppers BM, Laframboise R, Bridge P and Goldgar D. (2007). Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and multi-step testing approach in French-Canadian high-risk breast and/or ovarian cancer families. J. Med. Genet. 44(2):107-21. Aug.11 (2006) epub.

Research Funding

Alberta Children’s Hospital Foundation

“Gene Identification in Human Chiari I malformation” 2006
“Characterization and Gene Identification of Novel Neurodevelopmental Syndromes in the Hutterite Population of Alberta” 2006

CIHR – Institute of Aging

“The Impact of Neurocognitive and Psychological Factors on Quality of Life and Functional Recovery Among Older Patients Undergoing Coronary Revascularization Procedures” 2003-2007

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