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Transforming our understanding of rare diseases

Founded in 2022 through a collaboration between Dr. Bekim Sadikovic and London Health Sciences Centre, EpiSign™ Inc. embodies the culmination of more than a decade of dedicated research in Dr. Sadikovic’s laboratory at LHSC.

This entity stands at the forefront of clinical genomics and epigenomics, aiming to enhance the understanding and management of rare diseases with its cutting-edge EpiSign™ technology.

The foundation of EpiSign™ Inc. is built upon leveraging ground-breaking research on DNA methylation episignatures, striving to improve the contextual interpretation of genetic variations and other causes of rare diseases and more.

Seeking accurate answers for patients and families

The need for EpiSign™ Inc.’s innovative approach was sparked by the significant challenges in achieving a comprehensive understanding of rare diseases, which affect 1 in 20 individuals globally. Despite advancements, traditional genetic testing leads to a conclusive understanding in only a fraction of cases, often leaving many patients and families in a protracted search for answers.

The complexity and overlapping clinical presentations of the over 4,000 rare diseases, along with the intricacies of genomic interpretation, underscored the critical demand for more sophisticated tools.

EpiSign™ Inc. focuses on the field of epigenetics, particularly the study of changes in gene expression that do not alter the DNA sequence. We zero in on DNA methylation as a vital mechanism for regulating gene activity and organizing chromatin structure, thereby offering a more profound insight into disease phenotypes.

Discovering groundbreaking DNA patterns

A significant breakthrough in this area was the identification of unique DNA methylation patterns, or “episignatures,” linked to specific rare diseases. These episignatures have emerged as promising markers for a growing list of rare conditions due to their sensitivity and specificity.

Central to the technological prowess of EpiSign™ is the integration of the largest global reference database for DNA methylation profiles in hundreds of rare diseases with a proprietary AI-driven classifier.

This innovative approach, which is based on peripheral blood DNA methylation profiles, was initially implemented in 2019 to enhance the interpretation of genetic variants of unknown clinical significance, embodying a novel strategy for advancing rare disease understanding.

Implementing clinical epigenomics on a global scale

Beyond developing a clinical testing network, EpiSign™ Inc. has embarked on significant health system studies in Canada and internationally. These studies aim to evaluate the impact of clinical epigenomics on rare disease understanding, involving collaborations with over 100 institutions across 20 countries to extend the applications of EpiSign™ technology to a broader spectrum of disorders and environmental exposures.

Through our trailblazing efforts and the foundational research conducted in Dr. Sadikovic’s laboratory, EpiSign™ Inc. is dedicated to transforming the field of rare disease management, offering novel insights and clearer directions for millions worldwide affected by these conditions.