Meet The Clinicians in the Field: Frederic Acke

As part of Cleft and Craniofacial Awareness and Prevention Month, we are pleased to

introduce one of ERN CRANIO’s clinicians Frederic Acke:

I am Frederic Acke, an ear-nose-throat (ENT) surgeon specialized in ear and hearing disorders. I am involved in ERN CRANIO through our center’s expertise in genetic hearing loss. My interest in this field originated during my PhD research on Stickler syndrome, a genetic condition characterized by features including cleft palate and hearing loss. The management of genetic hearing loss requires a multidisciplinary approach, including diagnosis (collaboration of ENT and geneticist) and treatment (hearing aids and/or cochlear implant surgery, audiological follow-up, hearing training by speech therapist…). Patients often ask why genetic testing is important. The benefits are multiple: it can confirm the underlying cause of hearing loss, help predict its progression, identify associated conditions in syndromic forms of hearing loss, provide information about recurrence risk within the family, and enable reproductive options such as preimplantation genetic testing. In addition, gene therapy has recently become available for a specific form of genetic hearing loss, representing a true breakthrough for this subgroup of patients. In the field of rare diseases, sharing knowledge and clinical experience is essential to provide the highest standard of care for patients. To me, this is the greatest strength and most valuable role of the European Reference Networks for Rare Diseases.