ARRE Foundation

Research update: DNA methylation patterns associated with Bohring-Opitz Syndrome

Article Sections
Introduction
Research update: DNA methylation patterns associated with Bohring-Opitz Syndrome
Medical disclaimer
Resource Library
Introduction
In April 2022, a collaborative team from the Hospital for SickKids and the University of California Los Angeles published a paper in the European Journal of Human Genetics titled, “DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.” In this video, lead researcher Zain Awamleh, PhD explains what a DNA methylation pattern is and that the research team found a distinctive pattern associated with Bohring-Opitz Syndrome. This pattern can be used to improve diagnoses and can be used as a biomarker, or measurement tool, to test the effectiveness of future therapies.
 
This work was funded in part by the ARRE Foundation with contributions from families living with ASXL syndromes. We thank all of the families who have contributed to research, both financially and by providing biological samples to make this work possible.
 

Published: April 2022

Medical disclaimer

The information presented here is for educational purposes only. This information is not medical advice and should not be treated as such. You should always talk to your or your family member’s health care professionals for diagnosis and treatment, including information regarding which drugs or treatment may be appropriate for you or your family member. We do not represent or warrant that any particular treatment is safe, appropriate or effective for you or your family member. In the event of a medical emergency, you should contact your doctor immediately or call your local emergency service.

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