Center of Medical Genetics
Antwerp University Hospital/ University of Antwerp
Prins Boudewijnlaan 43
2650 ANTWERPEN-EDEGEM
BELGIUM
Lead
Scope
The area of expertise of the Center of Medical genetics, Antwerp University Hospital, within the ITHACA European Reference Network (ERN) covers all syndromes exhibiting developmental anomalies and/or intellectual disability (ID). About 1/40 newborn has a congenital malformation (261/10000 fetuses and newborn following EuroCAt reports), and 1/40 has ID. Therefore, 3 to 5 % of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents in reality the juxtaposition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The expertise of the Antwerp University Hospital includes:
– Over 5500 dysmorphic and multiple congenital anomaly (MCA) syndromes (listed in the London Dysmorphology Database), among which over 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial, sporadic dysmorphological anomalies and embryofetopathies of environmental origin
– >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD).
Services to patients
The Antwerp University Hospital strives to provide the best care for patients with congenital malformations and/ or intellectual within the scope of ERN ITHACA. With our expertise, we aim to offer state-of-the-art clinical care, and to contribute to research and education in the field of ERN ITHACA.
This is primarily coordinated by our Center of Medical Genetics (CMG), in close collaboration with many other disciplines. The clinical team of the Center of Medical Genetics consists of six clinical geneticists, all with individual expertise, five residents in genetics, four genetic counselors, one psychologist and one rare disease coordinator. The clinical team interacts closely with the CMG’s molecular diagnostics laboratory aiming to optimize the genetic diagnostic process in both quality of the findings and the report as well as the turnaround time of the analysis.
Our HCP has the required knowhow to provide high quality diagnostics and care for all patients with developmental delay, intellectual disability and/ or congenital malformations. However, the close collaborations within our HCP constitute one of our main strengths and have led to several specific multidisciplinary consultations. Some examples are:
- Several pediatric neurology/ genetics consultations focused on complex neurodevelopmental disorders, malformations of cortical development, cerebral palsy and neuropsychiatric disorders.
- ENT/ genetics consultations focused on cleft lip/ palate and syndromic hearing loss.
- Endocrinology/ genetics consultation focused on short stature and rare genetic endocrine disorders.
- (Pediatric) cardiology/ genetics consultation focused on congenital heart defects.
- Prenatal obstetric/ genetics consultation with expertise ultrasound and genetic counseling for fetuses with congenital malformations
These clinical collaborations reflect several areas of research activities in our HCP within the scope of ITHACA. Focuses of research groups within our HCP comprise cognitive genetics (intellectual disability/ autism spectrum disorder with specific expertise in Fragile X syndrome and Helsmoortel-Van der Aa syndrome), cerebral palsy, malformations of cortical development, congenital heart defects, hearing loss, Adams-Oliver syndrome and syndromic short stature.
Organization of the Antwerp University Hospital
The Antwerp University Hospital (UZA) is an academic center renowned for leading clinical and customer-friendly patient care, high-quality academic education and ground-breaking scientific research with a major international dimension.
With over 570 beds, the hospital offers a wide range of diagnostic and treatment services. Offering comprehensive care for patients with complex disorders, 578 physicians specializing in 38 different fields treat more than 650.000 patients every year. About 3000 employees work at UZA.
At the Antwerp University Hospital, medical specialists are true leaders in their field. They conduct pioneering clinical research and are constantly using this research to develop new treatments with the ultimate goal of providing every patient with the best medical care possible appropriate to their condition. The Antwerp University Hospital participates as a HCP in 17 different ERNs.