Academic Rank:
Clinical Associate Professor
Child and Family Research Institute
Children’s & Women’s Health Centre of BC

Short Bio:

Dr. Sinclair’s research interests focus on the laboratory diagnosis and pathophysiology of inborn errors of metabolism. This work is primarily translational in nature, using mass spectrometry approaches to apply basic research findings to the diagnosis, screening, and monitoring of patients with metabolic disorders. This work has included proteomic studies of murine models of lysosomal storage disorders for biomarker discovery and validation, along with population genetics studies of fatty acid oxidation variants and their potential clinical impact. Finally, the expansion of Newborn Metabolic screening in BC has provided a number of opportunities for the development of improved disease biomarkers and mass spectrometry-based diagnostic testing for rare diseases in BC.

Academic Backgrounds:
  • Fellowship (CCMG, Biochemical) University of British Columbia.  2007
  • Postdoctoral Research Fellow, University of British Columbia.  2004
  • PhD (Molecular Biology), University of Victoria. 2001
  • Bachelor of Science (Genetics), University of British Columbia. 1995
Selected Publications
  • Armstrong, Linlea, R Biancheri, C Shyr, A Rossi, G Sinclair, C Ross, M Tarailo-Graovac, W Wasserman and C van Karnebeek. “AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset”. Neurogenetics. 15.3 (2014): 157 – `59.
  • Al-Thihli, Khalid, Graham Sinclair, Sandra Sirrs, Michelle Mezei, Judie Nelson and Hilary Vallance. “Performance of serum and dried bloodspot acylcarnitine profiles for detectino of fatty acid b-oxidation disorders in adult patients with rhabdomyolysis”. JOURNAL OF INHERITED METABOLIC DISEASE. EPUB 8Jan2013 (DOI 10.1007/s10545-012-9578-7) (2013).
  • Yu, Hui, Clara van Karnebeek, Graham Sinclair, Alan Hill, Hong Cui, Wei Zhang and Lee-Jung Wong. “Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing “. MOLECULAR GENETICS AND METABOLISM. 110.4 (2013 ): 465 – 7.
  • Salvarinova-Zivkovic, Ramona, Carol Hartnett, Graham Sinclair, D. Dix, G. Horvath, Yolanda Lillquist and Sylvia Stockler. “The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report.”. MOLECULAR GENETICS AND METABOLISM. 105.4 (2012 ): 571 – 574.
  • Sinclair, Graham, Sorcha Collins, Oana Popescu, Deborah McFadden, Laura Arbour and Hilary Vallance. “The Carnitine Palmitoyltransferase I variant and sudden unexpected infant death in British Columbia First Nations”. PEDIATRICS. 130.5 (2012): e1162 – 1169.
  • van Karnebeek, Clara, Hans Hartman, L Bok, Barbara Cheng, Graham Sinclair, J.H. Vanderlee, E Gosp, Anibh Das, Uta Meyer, Eduard Struys, C. Jacobs, Saadet Mahmutoglu and Sylvia Stoekler. “Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials”. MOLECULAR GENETICS AND METABOLISM. 107.3 (2012): 335 – 344.
  • Mahmutoglu, Saadet, Mary Dunbar, Andrea Friesen, Susan Garret, Carol Hartnett, Linda Huh, Graham Sinclair, Sylvia Stockler, Stephen Wellington, Petra Pouwels, Gajja Salomons and Cornelus Jakobs. “Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency”. MOLECULAR GENETICS AND METABOLISM. 105.1 (2012): 155 – 158.
  • Marquardt, Gregg, Robert Currier, David McHugh, Dimitar Gavrilov, Mark Magera, Deitrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily Smith, Silvia Tortorelli, Coleman Turgeon, Fred Lorey, Bridget Wilcken, Veronice Wiley, Lawrence Greed, Barry Lewise, Francois Boemer, Roland Schoos, Sandrine Marie, Marie-Francoise Vincent, Yuri Cleverthorn Sica, Mouseline Domingos, Khalid Al-Thihli, Graham Sinclair, Osama Al-Dirbashi, Pransh Chakraborty, Mark Dymerski, Corey Porter and Adrienne Ma 2012
  • Mercimek-Mahmutoglu, Saadet, Graham Sinclair, SJM van Doorsen, W Kanhai, P Ashcraft, O Abdul-Hamid, Judie Nelson, O Betsalel, L Sweetman, C Jakobs and Gaya Solomons. “Carrier frequency of guanidinoacetate methyltransferase deficiency: First steps to newborn screening”. MOLECULAR GENETICS AND METABOLISM. 107.3 (2012 ): 433 – 437.
  • Wong, Sophia, Fady Hannah-Shmouni, Graham Sinclair, Sandra Sirrs, Marshall Dahl and Andre Mattman. “Acylcarnitine profile in thyroid disease”. Clinical Biochemistry. 46.1-2 (2012): 180 – 183.


  • Biochemical Genetics, Inborn errors of metabolism, Newborn screening
  • Fatty Acid Oxidation Disorders: Disorders of fatty acid oxidation are a rare but treatable group inborn errors of metabolism. We are investigating a mild variant of a fatty acid oxidation disorder (CPTI, P479L) that appears to be common to coastal BC First Nations and is associated with an increased risk of sudden death in infancy. Using a combination of biochemical, genetic, and linked-population health approaches, we are working with the affected communities to better define the natural history, clinical risks, and appropriate interventions for this variant.
  • Clinical Applications of Mass Spectrometry: We have a number of investigations underway to apply tandem mass spectrometry-based small molecule analysis to the diagnosis of inborn errors of metabolism, and as a replacement for routine clinical tests currently utilizing radio-isotopes for analysis.
  • Newborn Screening: Ongoing evaluation of health outcomes associated with disorders on the current BC Newborn Screening test panel and investigation of novel testing methodologies and new disorders as potential candidates for the further improvement/ expansion of the newborn screening program.
  • Clinical: Neonatal screening, Inborn errors of metabolism Laboratory:Mass spectrometry