DRUP study has started! Patients with Dup15q wanted.
We invite parents of children with Dup15q syndrome to participate in an important study aimed at identifying the signs and symptoms of this genetic disorder in the Netherlands.
Continue ReadingENCORE & ITHACA organise: Symposium on Genetic Neurodevelopmental Disorders
On February 14 for a the ENCORE Expertise Center and ITHACA organize a symposium on genetic neurodevelopmental disorders.
Continue ReadingResearch into the use of the drug Gaboxadol in children with Angelman Syndrome completed
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)
Continuation of the Angelman Syndrome 18-plus outpatient clinic
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 ReadingUNIEK op de radio!
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 ReadingVacature voor een PhD student
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
Expertisecentrum ENCORE voor NF1 rent mee met RUNEXPECTED!
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 ReadingUNIEK study started! – Participants wanted
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 ReadingSubsidy of more than 180,000 euros for research into the quality of life of adults with NF1!
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 ReadingNew guidelines published: 'management of tumors in NF1'
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.
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