ERN-ITHACA – Lyon Centre

Healthcare Provider (HCP) : Lyon University Hospital Consortium

representative: Dr. Massimiliano ROSSI. The Lyon HCP includes:

  • the National Referral Centre for Developmental anomalies and malformation syndromes (Genetic Department), Head and Coordinator: Prof. Patrick EDERY and
  • the National Referral Centre for Intellectual Disability (Child Neurology Department), Head and Coordinator: Prof. Vincent des PORTES.

The Lyon HCP, located in the second largest city of France, covers all developmental disorders from the fetus to adulthood including congenital anomalies, sensorineural diseases, intellectual disabilities and autism spectrum disorders. As a whole, up to 5% of human births show a developmental anomaly. This group of diseases is extremely heterogeneous, including thousands of different chromosomal and molecular defects, multifactorial disorders and embryofetopathies of environmental causes.

The Genetic and Child Neurology departments include clinical units, a cytogenetic lab with an array-CGH platform and a molecular genetics lab with non-invasive prenatal diagnosis and a next-generation sequencing/bioinformatics platform. Clinical units provide a fine phenotypic characterization in dysmorphology, neurology, neuropsychology, neurophysiology, psychiatry and pediatrics. The Genetic department is backed by a research team focusing on neurodevelopmental disorders (Genetics of Neurodevelopment team/GENDEV, Lyon Neuroscience Research Centre/CRNL, INSERM U1028, CNRS UMR 5292 University Lyon1). The Child Neurology department is affiliated to a research team focusing on cognition (L2C2, Institute of Cognitive Sciences, CNRS UMR 5304 University Lyon1). The Lyon HCP offers a large spectrum of training courses.

Further information

Lead:  Dr. Massimiliano ROSSI

PH Centre de référence

des anomalies du développement

Service de génétique

Hôpital  Femme-Mère-Enfant

59 boulevard Pinel


Tel:        +33 (0)4 27 85 55 72

Tel:        +33 (0)4 27 85 55 73