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Dr. David S. Sinasac BSc (Windsor), PhD (Toronto), FCCMG
Assistant Professor, Department of Medical Genetics, University of Calgary
Clinical Biochemical Geneticist, Genetic Laboratory Services, Alberta Health Services
Biochemical Genetics Laboratory, Room B0-121
Alberta Children's Hospital
2888 Shaganappi Trail NW
Calgary, Alberta, Canada T3B 6A8
Tel: (403) 955-3138 Fax: (403) 955-7905
e-mail:
Research Interests My research interests center on furthering our understanding of the cause, consequence and potential treatments of inborn errors of metabolism (IEMs). As a clinical biochemical geneticist, I am directly involved in the laboratory diagnosis and monitoring of patients with inherited metabolic diseases. Therefore, one of my ongoing interests is in developing or establishing new laboratory methods for use in diagnosis and treatment management. Towards this goal, we are currently evaluating biomarkers as therapeutic outcome measures for a) for a common paediatric condition during the course of dietary treatment, and b) for I-cell disease following bone marrow transplantation.
Another research interest involves the use of high-throughput, massively paralleled (i.e., next generation) sequencing for the molecular investigation of patients with apparently novel IEMs. Several collaborative projects are currently underway that are making use of homozygosity mapping and whole-exome sequencing to identify the underlying cause of mitochondrial diseases and as other IEMs in affected families.
Lastly, I have an ongoing interest in further elucidating the pathophysiology of human citrin deficiency. Having played a role in cloning the SLC25A13 gene, and having established a mouse model of citrin deficiency, continuing collaborative endeavours involve further elucidating the metabolic consequences of citrin deficiency, and developing a rationale therapy for affected patients. Recent Publications Saheki T, Inoue K, Ono H, Tsushima A, Katsura N, Yokogawa M, Yoshidumi Y, Kuhara T, Ohse M, Eto K, Kadowaki T, Sinasac DS, Kobayashi K. Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knockout mice, a model of human citrin deficiency (2011). Mol Genet Metab Aug 19. [Epub ahead of print]
Shao H, Sinasac DS, Burrage LC, Hodges CA, Supelak PJ, Palmert MR, Moreno C, Cowley AW Jr, Jacob HJ, Nadeau JH (2010). Analyzing complex traits with congenic strains. Mamm Genome 21(5-6):276-86.
Burrage LC, Baskin-Hill AE, Sinasac DS, Singer JB, Croniger CM, Kirby A, Kulbokas EJ, Daly MJ, Lander ES, Broman KW, Nadeau JH (2010). Genetic resistance to diet-induced obesity in chromosome substitution strains of mice. Mamm Genome 21(3-4):115-29.
Sirrs S, Clarke JT, Bichet DG, Casey R, Lemoine K, Flowerdew G, Sinasac DS, West ML. Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative (2010). Mol Genet Metab 99(4):367-73.
Millward CA, Burrage LC, Shao H, Sinasac DS, Kawasoe JH, Hill-Baskin AE, Ernest SR, Gornicka A, Hsieh CW, Pisano S, Nadeau JH, Croniger CM (2009). Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17. Mamm Genome 20(2):71-82.
Shao H, Burrage LC, Sinasac DS, Hill AE, Ernest SR, O'Brien W, Courtland HW, Jepsen KJ, Kirby A, Kulbokas EJ, Daly MJ, Broman KW, Lander ES, Nadeau JH (2008). Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis. Proc Natl Acad Sci USA 105(50):19910-4. . Saheki T, Iijima M, Li MX, Kobayashi K, Horiuchi M, Ushikai M, Okumura F, Meng XJ, Inoue I, Tajima A, Moriyama M, Eto K, Kadowaki T, Sinasac DS, Tsui LC, Tsuji M, Okano A, Kobayashi T (2007). Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. J Biol Chem 282(34):25041-52.
Millward CA, Heaney JD, Sinasac DS, Chu EC, Bederman IR, Gilge DA, Previs SF, Croniger CM (2007). Mice with a deletion in the gene for CCAAT/enhancer-binding protein beta are protected against diet-induced obesity. Diabetes 56(1):161-7.
Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Horiuchi M, Tsui LC, Tanaka M, Nakamura Y, Saheki T. Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice (2006). J Hepatol 44(5):930-8. |
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