Nicole Martin

Nicole Martin received her master's degree in Genetic Counselling at the University of Toronto in 2003. She is an ABGC and CBGC certified genetic counsellor. Since graduating Nicole has worked in a clinical setting providing genetic counselling services to patients seeking care in prenatal, adult and pediatric genetics. Nicole has worked at The Hospital for Sick Children (SickKids) since 2020 and specializes in metabolic genetics and genetic disorders of growth. Nicole has a passion for teaching and education and is actively involved in supervision, lecturing and course coordination for the University of Toronto M.Sc. Genetic Counselling Program.

Research

Current research includes early tumour diagnosis by cell free DNA in Wilms tumour predisposition syndromes and investigating genetic and epigenetic factors contributing to human disorders and impacting therapeutics.

Education and experience

• 2020–Present: Genetic Counsellor, Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
• 2003–2004; 2005–2020: Genetic Counsellor, Department of Obstetric and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada
• 2004–2005: Genetic Counsellor, North York General Hospital, Toronto, ON, Canada
• 2001–2003: Master of Science, Genetic Counselling, University of Toronto, Toronto, ON, Canada
• 1995–2000: Bachelor of Science, Honours Co-operative Biochemistry, University of Waterloo, Waterloo, ON, Canada

Achievements

• 2018: Outstanding Clinical Supervisor, Association of Genetic Counseling Program Directors, University of Toronto, Toronto, ON, Canada

1. Martin SN, Sutherland J, Levin A et al.: Characterization of Congenital Glaucoma in a Consanguineous Canadian Community: A step towards preventing glaucoma-related blindness. J Med Genet, 2000; 37: 422-427.
2. Au PY, Martin N, Chau H et al.: The oncogene PDGF-B provides a key switch from cell death to survival induced by TNF. Oncogene, 2005; Apr 28; 24(19): 3196-205.
3. Martin N, Mikhaelian M, Cytrynbaum C, et al.: 22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness. J Genet Couns. 2012 Dec;21(6):825-34.
4. Lazier J, Martin N, Stravopoulos JD, and Chitayat D: Maternal Uniparental Disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia and persistent Mullerian structures. Am J Med Gen Part A. 2016; 170(12):3227-3230.
5. Deshwar AR, Martin N, Shannon P and Chitayat D: A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. Clin Genet. 2020; 98(3): 299-302.