G.C.B. (Karen) Bindels- de Heus

I am a pediatrician specialized in Genetic and Developmental Disorders and specifically involved in neurocognitive diseases in the ENCORE Expertise center. Here I participate in a multidisciplinary expertise clinic for children with:

• Angelman syndrome (AS)
• Dup15q
• Tuberous Sclerosis Complex

I am doing a PhD project “Health issues in Angelman syndrome” and participate in the other research projects in our ENCORE Expertise Center for AS and Dup15q.

I am a staff member at the department of Pediatrics in Erasmus MC Sophia Children’s Hospital in Rotterdam since 2004. I am the chair of the regional network for professionals in the field of Genetic and Developmental Disorders Southwest of the Netherlands and the chair of the section Genetic and Developmental Disorders (EAA) of our Dutch Pediatric Society (NVK).

An overview of health issues and development in a large clinical cohort of children with Angelman Syndrome. Karen G.C.B. Bindels-de Heus, Sabine E. Mous, Maartje ten Hooven-Radstaake, Bianca M. van Iperen-Kolk, Cindy Navis, André B. Rietman, Leontine W. ten Hoopen, Alice S. Brooks, ENCORE Expertise Center for AS, Ype Elgersma, Henriëtte A. Brooks, ENCORE Expertise Center for AS, Ype Elgersma, Henriëtte A. Moll, Marie-Claire Y. de Wit.  AJMG Part A. 2020–11.

Collaborations

We work together with the Dutch Parent Organisation for AS: www.angelmansyndroom.nl and are participants of the ASF International Clinical Network for AS/ Dup15q.

What current research projects are involved in?

1. Natural History Study with focus on eating behavior, growth, bone quality and puberty.
2. ROSA: Rotterdam Outcome measure in Angelman with focus on neurocognitive functioning and growth and metabolism.
3. Tangelo: an open-label, multicenter study to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of RO7248824 in participants with Angelman syndrome (BP41674) with Roche.