UNIEK 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 ReadingENCORE presents on 'ZeldSamen'
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 ReadingToday is International Angelman day
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 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.
Continue ReadingZEN study
Met de ZEN studie proberen we te onderzoeken of hoge resolutie zenuwechografie gebruikt kan worden voor het onderzoeken van de zenuwen van mensen met neurofibromatose type 1. Ook onderzoeken we of we veranderingen over de tijd kunnen meten.
Continue ReadingENCORE's Angelman research presented at the ASA research conference!
Met een grote delegatie van meer dan 10 artsen en onderzoekers bezocht ENCORE het Angelman onderzoekscongres van de Angelman Syndrome Alliance
Continue ReadingParticipation in drug study for Dup15q Syndrome
Our expertise center is currently assessing whether there is interest in participating in a new drug study. We ask parents to read this document (only in Dutch) carefully and let us know if you want to participate.
ENCORE runs the Runexpected sponsor run
On Saturday 21 May, employees of our ENCORE expertise center put on their running shoes and took part in the Runexpected, a sponsored run to raise money for scientific research into Neurofibromatosis.
There were employees from several departments of the party, such as child and adolescent psychiatry/psychology, pediatrics and neurology adults.
It was a very nice and funny event where our team put its best foot forward and ran with great pleasure. Parents and patients were very happy with our involvement.
We are very proud that we were able to raise a nice amount together! In total, more than 100,000 euros has been raised!! How fantastic!
A peek inside the Sophia Bus during Expedition NEXT!
On Friday May 6, we took our Sophia Bus to Expedition NEXT, the national science festival for children, organized by the National Science Day. Here children could take a peek into our Sophia Bus!
Continue Reading