Dr. Elena Kolomietz

SENIOR CLINICIAN SCIENTIST

Dr. Elena Kolomietz is co-Head, Division of Diagnostic Molecular Genetics, and Director, Cytogenetics Laboratory, Mount Sinai Hospital as well as Assistant Professor, Laboratory Medicine and Pathobiology, University of Toronto.

She holds a PhD from the University of Toronto and an MD from the St. Petersburg State Medical Academy and she undertook postgraduate training in cytogenetics at Mount Sinai Hospital.

Infertility is a major health problem affecting 19% of couples in Canada, with a male factor contributing in about half these cases. The most common known genetic cause of male infertility is a microdeletion in the Y chromosome. With current technology, however, analysis of the Y-chromosome has proved less than adequate. Dr. Kolomietz is leading a team developing a novel clinical test using microarray technology as a more precise, cost-effective, high-throughput alternative. Using a custom tiling array with advanced diagnostic capabilities, the team is now routinely uncovering novel, previously unidentified Y-chromosome rearrangements.

Dr. Kolomietz has developed a diagnostic algorithm based on direct genetic analysis of tissues using QF-PCR and array CGH for studies of abnormal embryonic development. Her team systemically applies phenotype-genotype analysis to their growing CNV database of over 1,000 perinatal samples. Improved sensitivity and increased diagnostic yield using samples from very early pregnancy losses, in correlation with preimplantation embryos, has provided new insights into the molecular basis of abnormal embryonic development and the etiology of pregnancy losses.

In her clinical role, Dr. Kolomietz was instrumental in implementing a Placental Molar Disease Laboratory Diagnostic Service and a Preimplantation Genetic Diagnosis Microarry-Based Service at Mount Sinai Hospital, both advanced diagnostic services unique in Canada.

At a Glance

Co-Head, Division of Diagnostic Molecular Genetics, and Director, Cytogenetics Laboratory, Mount Sinai Hospital as well as Assistant Professor, Laboratory Medicine and Pathobiology

Developing a microarray platform for detection of Y-chromosomal rearrangement in male factor infertility

Investigating the molecular basis of abnormal embryonic development and early pregnancy loss

Major Research Activities

The major focus of Dr. Kolomietz’s research is the development and application of genomic technologies to the understanding of the causes of reproductive failure. Identification and characterization of copy number variation in infertile males, preimplantation embryos and perinatal samples provide insight into the mechanisms that cause infertility and abnormal embryonic development.

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Dr. Elena Kolomietz

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