Chung-Jansen Syndrome is named after the two doctors/researchers who have been conducting separate research into this gene variance.
Dr. Sandra Jansen works at the AMC. Together with colleague Bert de Vries, she published an article about the syndrome in 2017:
Chung-Jansen Syndrome has been included in a research called Episign.
Epigenetics includes several processes that regulate the transcription of DNA without changing the DNA code. One of these processes is methylation. With methylation genes can be switched on and off. Methylation can be tested and the result is called episignature. Recently, it was found that several syndromes have a specific signature. Knowing if there is such a specific episignature helps to make a diagnosis if the result of DNA analysis is unclear. Also, it gives more insight in the pathophysiology of a disorder. Amsterdam UMC is working on the episignature for several syndromes, including Chung-Jansen syndrome.
For more information, please visit amc.nl
Dr. Wendy Chung’s lab is at Columbia University Medical Center in New York City. She did a study on the syndrome in both 2016 and 2018/19 and published three articles:
- Disruption Replication Fork Stability and Genome Integrity
There is currently a study on the syndrome in which patients with the syndrome can register for participation.
The intention is to obtain sufficient data from patients in order to achieve (evidence based) clinical care guidelines. Therefor more participants are required to enroll in this research.
For detailed information about this study please view the PHIP Family Meeting Presentation.
For futher information and registration you can send an email to: