Dr. Sandra Jansen works at the AMC. Together with colleague Bert de Vries, she published an article about the syndrome in 2017:
Current Research – 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 Colombia University Medical Center in New York City. She did a study on the syndrome in both 2016 and 2018/19 and published two articles:
There is currently a study on the syndrome in which patients with the syndrome can register for participation.
For more information about this study you can send an email to
|Scott Robinson (Genetic councelor)||email@example.com|
PHIP Family Meeting
Dr. Wendy Chung shares findings from ongoing PHIP-related syndrome study and answers questions from families. Dr. Sandra Jansen shares findings from another PHIP cohort and describes some broader ongoing research by her group relating to neurodevelopmental disorders.