Dr. Abdul Noor

Areas of Focus
Prenatal genetics and genomics

Dr. Abdul Noor is Director, Genetic Diagnostics, Pathology and Laboratory Medicine, Mount Sinai Hospital. He is also Assistant Professor, Laboratory Medicine and Pathobiology, University of Toronto.

He received his PhD from the University of Toronto and undertook additional training in cytogenetics at the Hospital for Sick Children, Toronto.

Dr. Noor ‘s work focuses on identification of genomic copy number variants associated with neurodevelopmental disorders including autism spectrum disorders and ADHD as well as bipolar disorder. He currently leads a grant studying the diagnostic utility of whole genome sequencing in prenatal diagnosis, and is collaborating on an investigation of the “two-hit hypothesis” for neurodevelopmental disorders associated with recurrent copy number variants 22q11.2 and 15q11.2 microdeletion.

He has received media coverage for his work identifying a new Joubert Syndrome gene, CC2D2A, and a new autism and intellectual disability gene, PTCHD1.

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Location

Mount Sinai Hospital
700 University Avenue
Toronto, Ontario
M5G 1Z5

At a Glance

Director, Genetic Diagnostics, Pathology and Laboratory Medicine, Mount Sinai Hospital as well as Assistant Professor, Laboratory Medicine and Pathobiology.

Identifying genomic copy number variants associated with neurodevelopmental disorders.

Leader of an ongoing study of whole genome sequencing in prenatal diagnosis.

Major Research Activities

Dr. Noor’s research focuses on identification of genomic copy number variants associated with neurodevelopmental disorders and development of new tests to improve diagnosis of the genetic disorders. He is also interested in implementing new genomic technologies in the clinical setting. In his laboratory the team uses high density microarray and other cytogenetic and molecular tests for prenatal and perinatal diagnosis.