On Wednesday 20 September, the team of the Dup15q ENCORE expertise center is organizing an information evening for parents of children with Dup15q syndrome at Erasmus MC. From 17:00 to 20:30 clinical and scientific topics will be discussed. For more information or to register, please email email@example.com
In 2019 and 2020, we participated in an international study with the ENCORE expertise center for Angelman Syndrome into the effect of the drug gaboxadol in children with Angelman Syndrome. This is a drug that stimulates the GABA delta receptor. Dutch children also participated.
In a previous study in which all participants received gaboxadol, clear positive effects were measured on daily functioning. In the current study, a lottery was done between gabaxadol and placebo. The results showed an improvement in both the children who received placebo and those who received gabaxadol. So there was no improvement with the gabaxadol. There were also no serious side effects. This again shows that a study with a placebo group is really important to know for sure whether a treatment is effective.
We thank the participants and their parents. The article with all the results has now been published. Click here to read the article (link valid until October 15)
Due to circumstances, the Angelman Syndrome 18-plus clinic has unfortunately been silent for a long time. But thanks to ASVZ, the Angelman Syndrome 18-plus clinic can start again!!Continue Reading
Our PhD student Kamil Hiralal was a guest in the Radio 1 program 'De Nacht van NTR' where he talked about his research into the genetics of autism spectrum disorder.Continue Reading
We are looking for a doctor with an interest in children and young adults with Angelman syndrome for a clinical PhD research. We are thinking of someone who has the ambition to become a pediatrician, pediatric neurologist, clinical geneticist or VG doctor. You will be working in an enthusiastic
multidisciplinary team of the ENCORE Center of Expertise Angelman Syndrome at the Erasmus MC Sophia Children's Hospital in Rotterdam.
Good communication skills and command of the English language are prerequisites, partly because the research project involves international activities.
You can start in the short term for a period of 4 years with a salary in accordance with the collective labor agreement.
Marie-Claire de Wit, kinderneuroloog en Karen Bindels-de Heus, kinderarts-EAA
Yes! On Sunday, May 14, 2023, it was that time again, the 2nd edition of RUNEXPECTED! With a wonderful proceeds of € 77,980 for research into neurofibromatosis.Continue Reading
The UNIEK study started in April 2023. Within this study, we are conducting research into people who have been found to have a rare genetic variant and who have been diagnosed with an autism spectrum disorder (ASD). We are looking for participants! Do you want to participate?Continue Reading
Sarah van Dijk, nurse specialist at Erasmus MC, has received a personal grant of more than 180,000 euros for her research into improving the quality of life of adults with neurofibromatosis type 1 (NF1), the DAISY study.Continue Reading
On February 16, ENCORE was also represented at the national symposium of ZeldSamen, an association that offers parents information, contact and recognition after the diagnosis of a rare genetic syndrome.Continue Reading
There are approximately 150 children with Angelman syndrome living in the Netherlands. These children have been helped in the ENCORE expertise center since 2010. A lot of research is also done in the ENCORE expertise center, both fundamental and clinical. For example, we participate in the TANGELO trail of Roche.Continue Reading