Category Archives: Editors Choice

Research into the use of the drug Gaboxadol in children with Angelman Syndrome completed

"Onderzoek

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)

UNIEK op de radio!

"UNIEK

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

Vacature voor een PhD student

"Vacature

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.

More information? Mail to angelman@erasmusmc.nl and visit our page about clinical research into Angelman Syndrome

Marie-Claire de Wit, pediatric neurologist and Karen Bindels-de Heus, pediatrician-EAA

New guidelines published: 'management of tumors in NF1'

"Nieuwe

The new guideline for 'Policy for tumors in NF1' was recently published from ERN GENTURIS. The guideline group was chaired by ianne Oostenbrink, pediatrician at Erasmus MC, and coordinator of the EMC-NF1 expertise center. A number of colleagues from the EMC also contributed to the formation of the new guideline.

Continue Reading