In the United States and The Netherlands

Chung-Jansen Syndrome is named after the two doctors/researchers who have been conducting separate research into this gene variance.

The Netherlands

Dr. Sandra Jansen, together with Dr. Bert de Vries, published one of the first articles about abnormalities in the PHIP gene in 2017:
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.

Recently EpiSign was completed for the PHIP-gene at Amsterdam UMC. Results will be published shortly.

Dr. Sandra Jansen explains what EpiSign is about:
“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 about Episign, please visit

Dr’s involved in the PHIP outpatient clinic:
Prof. Dr. Mieke van Haelst

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

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.

Drs. Niels Vos

Dr. Niels Vos has been working as a doctor at the department of clinical genetics at Amsterdam UMC since 2019.

Since 2020, he has also been conducting PhD research into hereditary forms of obesity, including syndromes in which obesity and learning disabilities occur more often (such as Chung-Jansen syndrome).

United States

Dr. Wendy Chung is Chief of Pediatrics at Boston Children’s Hospital. She has published multiple articles on the syndrome.

  3. Disruption Replication Fork Stability and Genome Integrity
  4. Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups

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.

Dr’s involved in the Study:
Dr. Wendy Chung