APHP Sorbonne University

Medical Genetics Department - Pitié Salpêtrière

47-83, Bd de l’hôpital

75013 Paris

+33 14 21 61 34 6

pitiesalpetriere.aphp.fr/genetique-clinique/

Intake Coordinators:

Anne FAUDET, CRA | anne.faudet@aphp.fr

Clinical Leads:

Solveig Heide, MD, PhD
Caroline Nava, MD, PhD
Cyril Mignot, MD, PhD
Perrine Charles, MD, PhD

Mission, Vision, Purpose:

Consultation for rare developmental disorders at all stages from fetal to adulthood

Intellectual disability, brain malformations, developmental anomalies

Molecular diagnosis for developmental disorders, prenatal and postnatal diagnosis: genomics and multi-omics approaches

Research projects on RNUpathies: phenotyping, phenotype-genotype correlations, multi-omics, phsyiopathologic mechanisms at Brain Institute