Unitat Funcional Estudi Genetic de les Hipoacusies Neurosensorials (UFGHN)
The Hospital de la Santa Creu i Sant Pau creates a new Functional Unit for the Genetic Study of Sensorineural Hypoacusis
In 2016, a group of professionals from the Genetics and Otolaryngology services of our Hospital saw the need to carry out these studies in our patients due to the high indication of this pathology. Hypoacusis or hearing loss is the most common sensory disorder in the human being and affects around 5% of the world's population. In developed countries it is estimated that approximately 60-70% of sensorineural hypoacusis have a genetic cause.
Since then we have studied more than 300 families with a very high performance in the matter of reaching a genetic diagnosis. These good results have made it possible to avoid making unnecessary (mainly radiological) tests, have helped predict the evolution and prognosis of the disease as well as the effectiveness of the treatment performed in affected patients. On the other hand, the early diagnosis of the etiology of hypoacusis has allowed anticipation of the appearance of other clinical manifestations in cases of syndromic sensorineural hearing loss, improving the quality of life of patients. One last, but very important unit utility is to be able to perform genetic counseling to affected families
The unit is composed of a multidisciplinary team of geneticists, otolaryngologists, ophthalmologists, paediatricians and genetic consultants. The primary objective is to achieve welfare excellence with comprehensive care and a multidisciplinary spirit of the patient affected by idiopathic sensorineural hypoacusis and their family sphere.
Health care team and attached services:
- Dr Laura Alias - Clinical genomics
- Dr Susana Boronat - Pediatrics
- Núria Cliville - Genetics
- Dr Julia de Juan - Otolaryngology
- Dr Adriana Lasa - Genetics
- Dr Sabina Luna - Ophthalmology
- Dr. César Orús - Otorinolaringology
- Dr. Albert Pujol - Otorinolaringology
- Dr Clara Serra - Genetics, genetic counseling
- Dr M. del Prado Venegas - Otolaryngology