Research
Chung-Jansen Syndrome is named after the two doctors/researchers who have been conducting separate research into this gene variance.
Dr. Sandra Jansen, together with Dr. Bert de Vries, published one of the first articles about abnormalities in the PHIP gene in 2017: nature.com.
In 2021 she teamed up with Dr. Agnies van Eeghen to start a PHIP expertise outpatient clinic at Amsterdam UMC. Adult patients or parents of children with the syndrome are welcome here for an intake interview. The purpose of the outpatient clinic is to set up a regional care network and to inform patients, their parents or caregivers and other health professionals.
Episign Research
Recently, a research group from Amsterdam UMC (including Niels Vos and Mieke van Haelst) together with colleagues from other countries published a new article on, among other things, Chung-Jansen syndrome. It was investigated whether people with Chung-Jansen syndrome have the same ‘signature’ when looking at something called ‘epigenetics’. There indeed appears to be a specific ‘epigenetic signature’ for people with Chung-Jansen syndrome. This will make it easier to diagnose other patients in the future and provide more clarity about the diagnosis if there is uncertainty.
Prof. Dr. Mieke van Haelst is a clinical geneticist with a special interest in predisposition and developmental disorders. She is the head of the clinical genetics section and director of the Emma Center for Personalized Medicine at Amsterdam UMC.
She is also the president of the Dutch Society for Human Genetics in the Netherlands. Her scientific research focuses on finding genetic causes of hereditary disorders.
She developed the genetic test for obesity in the Netherlands and aims for rapid therapy development for rare syndromes.
Dr. Lotte Kleinendorst has been working as a doctor in clinical genetics since 2015. She received her PhD in 2021 on rare genetic causes of obesity.
She is currently in training as a clinical geneticist at the Amsterdam UMC.
In addition, she has been appointed assistant professor at the Emma Center for Personalized Medicine, where she conducts research to provide faster diagnostics and customized care for children with a rare hereditary disorder.
Wenneke van Weelden, MD, has been working as a physician at the Clinical Genetics outpatient clinic at Amsterdam UMC since 2022.
In 2024, she began her PhD research on hereditary forms of obesity. This includes syndromes in which obesity is more common, such as Chung-Jansen syndrome.
Dr. Wendy Chung is Chief of Pediatrics at Boston Children’s Hospital. She has published multiple articles on the syndrome.
Natural History Study
The ongoing research of the Natural History Study collects data from people with Chung Jansen syndrome to gain valuable insights into how the disease presents and develops over time. Examining the condition at different ages over time provides important information about the evolution of Chung Jansen syndrome throughout life. The information gathered allows researchers and clinicians to work on improving guidelines and support for medical management, and to inform future clinical trials.
For more information and/or participation in this study, please send an email via the email addresses listed on the contact page.
