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Afia Hasnain
MBBS, PhD, FCCMG
Dr. Afia Hasnain is a Clinical Laboratory Director in the Division of Genome Diagnostics at The Hospital for Sick Children. She is a fellow of the Canadian College of Medical Geneticists dual trained in Cytogenetics and Molecular Genetics.
Afia’s research interests include the use of cytogenetic and molecular genetic technologies to study complex chromosomal rearrangements, with a focus on test development.
Selected publications
Hasnain A, Laura L. Thompson, Nicole L. Hoppman, Karine Hovanes, Jing Liu, Bita Hashemi, "Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation", Case reports in genetics vol. 2024 6319030. 30 Jan. 2024, doi:10.1155/2024/6319030.
Raghuram N, Nakashima K, Rahman, Syaza A, Evangelia S, Torjus M, Pietro V, Anupam R, Karen A, Catherine K, Rishi S, Daniel J, Kirsi, Kolenova A, Balwierz W, Norton A, O’Brien M, Cellot S, Chopek A, Arad-Cohen N, Goemans B, Rojas-Vasquez M, Ariffin H, Bartram J, Kolb E, Locatelli F, Hasegawa D, Klusmann J, Hasle H, McGuire B, Hasnain A, Sung L, and Hitzler J. Survival Outcomes of Children with Relapsed or Refractory Myeloid Leukemia Associated with Down syndrome. Blood advances vol. 7,21 (2023): 6532-6539. doi:10.1182/bloodadvances.2022009381
Hasnain A, Burnett S, Agatep R, Spriggs E, Chodirker B, Mhanni AAA. Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene. Cold Spring Harb Mol Case Stud. 2021;7(5):a006106.
Tanguy G, Drévillon L, Arous N; Hasnain A, Hinzpeter A, Fritsch J, Goossens M, Fanen P. CSN5 Binds to Misfolded CFTR And Promotes Its Degradation. Biochim Biophys Acta. 2008