APHP Sorbonne University

CardiologyDentistryDermatologyDiet & NutritionEndocrinologyEpileptologyFeeding TherapyGastroenterologyGenetic CounselingMetabolic MedicineNeurologyOccupational TherapyOpthalmologyOrthopedicsOtolaryngologyPediatricsPhysical TherapySleep MedicineUrology
Written By Heather Margrill

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 Coordinator:

🩺 Clinical Leads:

  • Solveig Heide, MD, PhD

  • Caroline Nava, MD, PhD

  • Cyril Mignot, MD, PhD

  • Perrine Charles, MD, PhD

🏥 Multidisciplinary Care Team:

  • Developmental or neuro-psychologist

  • Endocrinologist

  • Epileptologist

  • Genetic Counselor

  • Neurologist

  • Pediatrician

🔬 Center Focus:

  • Clinical

  • Research

🔄 Supports Pediatric Transition to Adult Care:

  • Yes

⭐ 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

Heather Margrill
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