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About Sickkids
About SickKids

Saadet Andrews, M.D., Ph.D., FCCMG

The Hospital for Sick Children
Staff Physician
Clinical and Metabolic Genetics

Research Institute
Project Investigator
Research Institute

University of Toronto
Associate Professor
Paediatrics

Associate Member
Institute of Medical Sciences


Phone: (416) 813-7654 Ext. 301480
Fax: (416) 813-4940
Email: saadet.andrews@sickkids.ca

Brief Biography

  • MD- Ege University, Izmir, Turkey and Leopold-Franzens Innsbruck University, Innsbruck, Austria
  • Pediatric Residency- University of Istanbul, Istanbul, Turkey
  • Biochemical Genetics Fellowship, University of British Columbia, Vancouver, Canada
  • PhD- Free University Amsterdam, The Netherlands
  • Licentiate of the Medical Council of Canada, Ottawa, Ontario, Canada

Areas of Speciality 

  • Creatine deficiency disorders
  • Pyridoxine dependent epilepsy
  • Epilepsy genetics
  • Inherited neurotransmitter disorders
  • Neurometabolic disorders
  • Pediatric movement disorders

Research Interests

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
  • Gene discovery for epilepsy and developmental delay in childhood
  • Gene discovery for neonatal encephalopathy

Publications

Click here to view Saadet Andrews' current publications. 

Selected Publications

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.

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. 2017 Aug 17. doi: 10.1038/gim.2017.129.

Al Teneiji A, Bruun TU, Cordeiro D, Patel J, Inbar-Feigenberg M, Weiss S, Struys E, Mercimek-Mahmutoglu S. Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. Metab Brain Dis. 2017 Apr; 32(2):443-451.

Lionel AC, Monfared N, Scherer SW, Marshall CR, Mercimek-Mahmutoglu S. MED23-associated refractory epilepsy successfully treated with the ketogenic diet. Am J Med Genet A. 2016;170(9):2421-5.

DesRoches CL, Bruun T, Wang P, Marshall CR, Mercimek-Mahmutoglu S. Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM. Hum Mutat. 2016;37(9):926-32

Mercimek-Mahmutoglu S, Salomons, GS. Creatine deficiency syndromes. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. Source GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. 2009 Jan 15 [updated 2015 Dec 10]. Senior Responsible Author.

Marras C, Lang A, van de Warrenburg BP, Sue C, Tabrizi SJ, Bertram L, Lohmann K, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Klein C. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force.  Mov Disord. 2016;31(4):436-57.

Patel J, Mercimek-Mahmutoglu S. Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes. Indian J Pediatr. 2016;83(10):1164-74.

Mercimek-Mahmutoglu S, Pop A, Kanhai W, Fernandez MO, Holwerda U, Smith D, Loeber, Schielen P, Salomons GS. A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. Gene. 2016;575:127-31.

Desroches CL, Patel J, Wang P, Minassian B, Marshall CR, Salomons GS, Mercimek-Mahmutoglu S. Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. Molecular Genetics and Genomics. 2015;290:2163-71.

DesRoches C, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S. Estimated carrier frequency of creatine transporter deficiency in the general female population using functional characterization of novel missense variants in the SLC6A8 gene. Gene. 2015;565:187-91.

Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner E, Logan W, Mendoza-Londono R, Mahendranath M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopolou L.  Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. Orphanet J Rare Dis. 2015 Feb 8;10:12. doi: 10.1186/s13023-015-0234-9.

Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian B, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015;56:707-16.

Mercimek-Mahmutoglu S, Cordeiro D, Cruz V, Hyland K, Struys EA, Kyriakopoulou L, Mamak E.  Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: Larginine supplementation alternative to lysine-restricted diet. European Journal of Paediatric Neurology. 2014;18:741-6.

Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS. Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.  Human Mutation.  2014;35:462-9.

Mercimek-Mahmutoglu S, Sinclair G, van Dooren SJ, Kanhai W, Ashcraft P, Michel OJ, Nelson J, Betsalel OT, Sweetman L, Jakobs C, Salomons GS.  Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease. Molecular Genetics and Metabolism.  2012;107:433-7.