Erasmus MC University Medical Center
Dr. Molewaterplein 40
3015 GD Rotterdam
+31 10 703 6915
erasmusmc.nl/nl-nl/patientenzorg/poliklinieken/klinische-genetica
🗂️ Intake Coordinator:
Drs. Minke van Aalst | Medical Doctor | renu@erasmusmc.nl
🩺 Clinical Leads:
Dr. Alice S Brooks, MD, PhD | Clinical Geneticist
Dr. Stefan Barakat, MD, PhD | Clinical Geneticist, associate professor in Clinical Genetics
🏥 Multidisciplinary Care Team:
Developmental or neuro-psychologist
Genetic Counselor
Neurologist
Ophthalmologist
Orthopedics
Pediatrician
🔬 Center Focus:
Clinical
Research
🔄 Supports Pediatric Transition to Adult Care:
Yes
⭐ Mission, Vision, Purpose:
We aim to improve the life of patients and their families affected by ReNU syndrome and related conditions.
Our center has a longstanding interest in disease causes found in the non-coding genome. Since 2024, we are actively involved in various research lines connected to RNU4-2 and other RNUopathies previously hidden in the non-coding genome. Given our leading expertise on these disorders, we have become the national reference center in the Netherlands for these conditions. In 2025, we have started a dedicated ReNU syndrome and non-coding genomics outpatient clinic.
We aim to
function as national knowledge hub for ReNU syndrome and related conditions for patients, families and medical specialists
improve the care for affected patients and their families, and
deepen our understanding of these conditions through both clinical and fundamental research. With this we aim to have our cohort of Dutch patients ready for implementing novel therapies coming forth of research through clinical trials for these conditions once they appear.
