News
medical knowledge and developments
Now that the gene abnormalities associated with Chung-Jansen syndrome have been known for some years, PHIP pops up in more studies. However, much is still unclear about the impact of the various abnormalities in the gene on (psychological) health. There is an increasing need for multidisciplinary help for patients with the syndrome. Because there is no expertise center or clinic of their own, patients are dependent on help elsewhere.
All news about (medical) knowledge about PHIP and the appropriate care is listed here.
PHIP Family Meeting 2021
Dr. Chung has held an online presentation about her ongoing study of the PHIP-gene abnormalities. She calls on patients or their parents/caregivers to register for her study and emphasizes the importance of participation. She also discussed the opportunity for patients in the United States to be enrolled in a study on a new medication against obesity, setmelatonide.
For detailed information about this study please visit the Research page
Outpatient Clinic Amsterdam UMC
In Amsterdam UMC Sandra Jansen, clinical geneticist in training, and Agnies van Eeghen, physician for individuals with intellectual disability, started an outpatient clinic for children and adults with Chung-Jansen syndrome. For more information, please visit vumc.nl
Adults with Chung-Jansen welcome in Erasmus MC
Grown ups with the syndrome are welcome in Erasmus MC for multidisciplinair healthcare in the center for hereditary and congenital disorders, founded by Dr. Laura de Graaff.
Included in Orphanet Database of Rare Diseases
Chung-Jansen syndrome has been included in the database of rare diseases on the website of www.orphanet.nl !
Gen Mutation Research on Childhood Obesity
In a research on childhood obesity three gene mutations have been found which contribute to obesity of which 1 is PHIP
PHIP Family Meeting 2018
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.
You can click on the link to view the full video of the Family Meeting on YouTube.