DNA Methylation Episignatures as Diagnostic Biomarkers for Rare Disease

Description

This webinar will explore the role of DNA methylation episignatures as clinically actionable biomarkers for the diagnosis of rare genetic disorders. Dr. Bekim Sadikovic will highlight how genome-wide methylation profiling enables functional interpretation of genetic variation, including the resolution of variants of uncertain significance, while also supporting screening in patients with suspected genetic disease. The session will provide insight into the development, validation, and global implementation of episignature-based testing in clinical laboratories. Emphasis will be placed on real-world applications, demonstrating how epigenomic data can improve diagnostic yield and advance precision medicine.

Level of Instruction
Intermediate - Refresher course; some basic knowledge of subject recommended

Learning Objectives

1. Participants will be able to describe the biological basis of DNA methylation episignatures and explain how they are generated and detected using genome-wide profiling technologies.
2. Participants will be able to evaluate the clinical utility of episignature testing in rare disease diagnostics, including its role in resolving variants of uncertain significance and improving diagnostic yield.
3. Participants will be able to evaluate the considerations for implementing DNA methylation episignature testing in clinical practice, including regulatory, operational, and health system factors.

Course summary

Available credit: 
  • 0.10 NSGC CEU
Course opens: 
06/18/2026
Course expires: 
06/18/2028
Cost:
$0.00

Presenter: Bekim Sadikovic, PhD, DABMG, FACMG

Research Chair in Clinical Genomics and Epigenomics at London Health Sciences Centre & Professor at Western University

Dr. Bekim Sadikovic is the Research Chair in Clinical Genomics and Epigenomics at London Health Sciences Centre and Professor at Western University. He serves as Division Head of Molecular Diagnostics and Scientific and Clinical Director of the Verspeeten Clinical Genome Centre. Dr. Sadikovic is a pioneer in the development and clinical implementation of DNA methylation episignatures, leading the creation of EpiSign, a globally adopted platform for the diagnosis of rare genetic disorders. His work focuses on translating epigenomic discoveries into scalable clinical tools that improve diagnostic yield and enable precision medicine. He is also Founder and Chief Scientific Officer of EpiSign Inc., advancing innovation at the intersection of genomics, epigenomics, and AI.

 

 

Moderator: Caitlin Reid, MS, CGC

Genomic Science Liaison at Ambry Genetics

Caitlin joined Ambry Genetics in 2021 as the Oncology Genomic Science Liaison for the Midwest territory. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Caitlin previously worked as an Oncology Genetic Counselor at the University of Iowa in the Holden Comprehensive Cancer center. Caitlin received her Bachelor of Science degree in Biology with a concentration in cell and developmental biology from the University of Iowa. She earned her Master of Science degree in Genetic Counseling from the University of Michigan in 2018 and is certified by the American Board of Genetic Counseling.

 

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Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Programs.

Credit eligibility varies by activity; please see below for the specific credit types offered for this course.

Available Credit

  • 0.10 NSGC CEU

Price

Cost:
$0.00
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Please note: Attendees must track continuing education (CE) credits towards recertification. Credit cannot be claimed for both live and recorded versions of the same webinar; attendance is cross-checked annually. We apologize for the inconvenience and are working toward a single-platform solution to automatically manage dual registration and integrated transcript tracking.