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Saadet Andrews

Staff Physician, Clinical and Metabolic Genetics
Alternate Contact Name:
Denese Henry
Alternate Phone:
416-813-7654 ext. 301480
Alternate Email:
U of T Positions:
Associate Professor, Department of Paediatrics, Associate Member, Institute of Medical Sciences

Research Positions

Project Investigator
SickKids Research Institute



Dr. Saadet Andrews’ research focuses on creatine deficiency disorders, pyridoxine-dependent epilepsy, and epilepsy genetics. Andrews and her team characterized first knock-out aldh7a1 zebrafish to study neuropathogenesis of pyridoxine dependent epilepsy caused by mutations in ALDH7A1. This model will serve for drug screening to identify novel treatment for pyridoxine dependent epilepsy. She is also interested in gene discovery for epilepsy and developmental delay in childhood, and gene discovery for neonatal encephalopathy.


  • 1985–1992: Medical Doctor, Medical Faculty, Ege University, Izmir, Turkey
  • 2002: Doctor of Medicine, Medical Faculty, Leopold-Franzens Innsbruck University, Innsbruck, Austria
  • 2005–2008: Fellow of Canadian College of Medical Geneticist Biochemical Genetics, Department of Paediatrics, Department of Medical Genetics, Department of Laboratory Medicine, University of British Columbia, British Columbia Women’s and Children’s Hospital, Vancouver, BC
  • 2006–2008: Licentiate of the Medical Council of Canada, Medical Council of Canada, Ottawa, ON
  • 2010–2013: Doctor of Philosophy, Department of Clinical Chemistry, VU Medical Center, Free University, Amsterdam, The Netherlands
  • 2018: Fellow, The Royal College of Physicians and Surgeons of Canada, Ottawa, ON


  • 1998: Paediatrician, Neonatal Intensive Care Physician, International Private Hospital, Istanbul, Turkey
  • 1992: Family Physician, State Children‘s and Women‘s Hospital, Afyon, Turkey
  • 1999: Pediatrician, Ömür Private Hospital, Istanbul, Turkey
  • 2009–2011: Staff Biochemical Geneticist, Division of Biochemical Diseases, Department of Paediatrics, University of British Columbia, Vancouver, BC
  • 2009–2011: Assistant Professor, Division of Biochemical Diseases, Department of Paediatrics, University of British Columbia, Vancouver, BC
  • 2011–2016: Assistant Professor, Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, ON
  • 2011–2017: Program Director for Biochemical Genetics Fellowship – Canadian College of Medical Geneticist Accredited Biochemical Genetics Fellowship, Toronto, ON


  • 2014: Invited Guest Editor - Special Issue of Journal of Paediatric Epilepsy
  • 2014–Present: Editorial Board Member - Journal of Paediatric Genetics
  • 2015: Invited Co-chair - Energy Metabolism Defects, XIII. National Metabolic and Nutrition Congress
  • 2016: Epilepsia Clinical Science Research Prize - American Epilepsy Society
  • 2017: Best Review Article of 2016 Award - International Parkinson and Movement Disorder Society
  • 2018–Present: Chair - Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel
  • 2018–Present: Scientific Board Member - Association for Creatine Deficiencies
  • 2018–2019: President - Garrod Symposium 2019
  • 2018–2019: International Metabolic Disorders and Nutrition Conference Scientific Committee Member
  • 2018–2019: Society For The Study of Inborn Errors Of Metabolism Annual Symposium 2019 International Scientific Committee Member
  • 2018–2019: Task Force Chair - Isovaleric Aciduria Newborn Screening Review
  • 2019–Present: Communicating Editor - Journal of Inherited Metabolic Disease
  • 2019: Invited Chair - Society For The Study Of Inborn Errors Of Metabolism Annual. Symposium
  • 2019–Present: Expert Panel Member - Epilepsy Gene Curation Expert Panel
  • 2019: Chair - Garrod Symposium 2019


  • 2019–2023: Observational study of males with creatine transporter deficiency. Ultragenyx Pharmaceutical Inc, Principal Investigator.
  • 2018–2020: Neonatal encephalopathy: identification of underlying genetic causes. Physicians’ Services Incorporated Foundation, Health Research Grant. Co-Investigators: Marshall C, Vann C, Wilson D. Principal Investigator.
  • 2016–2020: A randomized, double-blind, placebo-controlled study with an open-label extension. Pediatric site investigator Canada-wide. Principal Investigator.

  • 2016–2019: Observational study of males with creatine transporter deficiency. Lumos Pharmaceutical Inc, Principal Investigator.
  • 2016–2018: A Phase 2/3, Multicenter, Multinational, Open Label Study to Evaluate the Efficacy and Safety of ALXN1101 in Neonates with Molybdenum Cofactor Deficiency (MoCD) Type A. Principal Investigator.
  • 2015–2016: Prevalence of MPS in individuals undergoing nerve conduction study for carpal tunnel syndrome. Co-Investigators: Raiman J, Vijsar J. Principal Investigator.
  • 2015–2016: Prevalence of mucopolysaccharidoses in individuals with musculoskeletal system and connective tissue manifestations in the Rheumatology Clinics. Co- Investigators: Raiman J, Laxer R, Levy D. Principal Investigator.
  • 2014–2015: Identification of genes involved in epilepsy and epilepsy pharmacoresistance. McLaughlin Centre, Accelerator Grants in Genomic Medicine. Principal Investigator: Minassian B. Collaborators: Mahmutoglu S, Andrade D.
  • 2013–2015: Identifying the genes and underlying causes for intractable epilepsies by next generation sequencing. McLaughlin Centre, Accelerator Grants in Genomic Medicine. Co-Investigators: Minassian B. Principal Investigator.
  • 2011–2014: A multicenter, multinational, extension study to evaluate the long-term efficacy and safety of BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A Syndrome) 005. Biomarin Pharmaceutical. Principal Investigator: Raiman J. Co-Investigator: Mahmutoglu S, Fagfoury H.
  • 2011–2012: A phase 3, randomized, double-blind, placebo-controlled, multinational clinical study to evaluate the efficacy and safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A Syndrome) 004. Biomarin Pharmaceutical. Principal Investigator: Raiman J. Co-Investigator: Mahmutoglu S, Fagfoury H.


  1. Costain G, Cordeiro D, Matviychuk D, Mercimek-Andrews S. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. Neuroscience. 2019 Oct 15;418:291-310. 
  2. Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. J Med Genet. 2019 Feb;56(2):113-122.  
  3. Bruun TUJ, DesRoches CL, Wilson D, Chau V, Nakagawa T, Yamasaki M, Hasegawa S, Fukao T, Marshall C, Mercimek-Andrews S. Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. Genet Med 2018;33(3):875-884.
  4. Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. Eur J Paediatr Neurol. 2018;22(3):369-379.
  5. Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S. Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. PLoS One. 2017 Oct 20;12(10):e0186645. doi: 10.1371/journal.pone.0186645. eCollection 2017.

Relevant pages

Staff Profile - Institute of Medical Science, U of T

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