Presentation of the Reference Center:

Deafness is the most common sensory deficit; it affects 1 in 700 children at birth and affects a large percentage of the adult population. Deafness, therefore, is not a rare disease but in fact it brings together a large number of rare diseases of genetic origin. The genetic origins of childhood deafness are currently estimated at 80%. The genetic part of deafness appearing in adulthood remains to be determined but will probably be of the same order. More than 100 different genetic forms are currently identified in isolated deafness, and more than 400 different syndromes including deafness have already been described.

The reference center for genetic deafness, unique in France, is based on two different sites, thus facilitating the child/adult transition:

• the Necker-Enfants Malades hospital, a site specially dedicated to children
• the hospital of La Pitié Salpetrière, site dedicated to adults.

Approximately 700 families are seen annually in the center. The care of these patients is provided by a team comprising a geneticist, a genetic counselor, a clinical psychologist, a nurse, a midwife and two secretaries; working in close collaboration with the 2 services of ENT, referents in the management of deafness. In addition, a national network was set up through 17 competence centers for genetic deafness.

As part of the Rare Disease Plan, the reference center for genetic deafness is linked to the national SENSGENE network (coordinated by Professor Hélène Dollfus, CRMR Cargo, CHU Strasbourg).

Coordination Centre

Hôpital Necker Enfants Malades
Service de génétique médicale
Institut IMAGINE
149 rue de Sèvres
75 743 Paris cedex 15

Team

• Docteur Sandrine Marlin, Coordonnateur et médecin

• Docteur Laurence Jonard, Biologiste

• Eva Leite Freire, Secrétariat

• Sybille De Bergh, Psychologue

• Souad Gherbi, Conseillère en génétique

• Fabienne Saint Jalmes, Infirmière

• Ines Ben Aissa, Chargée de mission SENSGENE

Make an appointment

• Children: 01 44 49 57 44

• Adults : 01 42 16 13 95

Contact the centre

• Children
  Phone: 01 71 39 69 04
  Email: genetique.surdite@nck.aphp.fr

• Adults
  Phone: 01 42 16 26 04
  Email: genetique.surdite@psl.aphp.fr