Genetica Medica
DAI Materno-Infantile
Azienda Ospedaliera Universitaria “Federico II”
Via Sergio Pansini 5
80131 NAPOLI
ITALY
Lead
Dr. Prof. Nicola Brunetti-Pierri
Telephone: +39 081 746 3288
Fax: +39 081 746 3116
Mail: nicola.brunetti@unina.it
Scope
The area of expertise of our Centre, as member of 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 jurisdiction and scope of expertise of this ITHACA Centre includes:
- over 5500 dysmorphic and multiple congenital anomalie (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)
Organisation of the Center
The HCP is within the Department of Pediatric and Maternal Health of Federico II University Hospital in Naples, one of largest University Hospital in Southern Italy. Children are referred to our unit for several reasons, including developmental delay, multiple congenital anomalies, and malformations. The HCP team is involved in diagnosis, management, and therapies of genetic diseases. The team is also involved in teaching activities. We have experience with both common conditions and very rare genetic syndromes affecting sometimes just a small number of children worldwide. When available genetic tests are negative or inconclusive, we specialize in finding answers for complex and hard-to-diagnose genetic conditions, applying new technologies. We often invite our patients to participate in research studies to help us understand the genetics and basic biology of disease, such as the Telethon Undiagnosed Disease Program:
We have strong collaborations with the Telethon Institute of Genetics and Medicine, a leading institute for research in genetic diseases:
Our team is also involved in the development of new treatments, including gene therapies for rare genetic diseases.