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Symposium on Hereditary Hearing Impairment: from diagnosis to thera
This symposium focuses on hereditary hearing loss (HHL) and the different approaches are being implemented to make a reality the transition from the clinical and genetic diagnostic to the application of therapies to palliate and even cure this group of disorders. A severe to profoundly deaf child is born once in every 1,000 births and, in adults, hearing loss is present in 4% of people younger than 45 years, reaching 50% by age 80. According to recent data an overall number of people suffering from hearing loss of more than 25 dB will exceed 700 million by 2015, of which some 90 million will be Europeans. Therefore, hearing impairment represents a public health problem affecting both children and adult population.
While this sensory defect is quite common, it is genetically heterogeneous, with many genetic forms of deafness, each in themselves rare. To date, the many rare forms of deafness are represented by more than 75 genes that underlie nonsyndromic hearing loss (NSHL) in the human population worldwide. However, it is estimated that at least 200 may exist but are yet to be found. In addition more than 400 syndromes including “deafness” among their clinical features have been identified so far.
Only by the combination of the clinical and “advanced” genetic diagnostic followed by in depth studies of the mechanisms of pathogenesis that we can establish the bases for accurate therapeutic approaches beyond the hearing solutions that are accessible to the patient nowadays (i.e. hearing aids or cochlear implants). Identifying the underlying molecular cause in each single patient with a genetic form of HL is extremely important for a proper individual risk assessment and optimized individualized medical care, including genetic counselling. Only genetic diagnosis can clearly distinguish between NSHL and certain syndromic forms (SHL) without concomitant morphological and obvious anomalies. Furthermore, significant improvements in medical treatments can be implemented due to the genetic classification of HL, in particular by shedding new light on which genetic type of HL may especially benefit from cochlear implants, or in which form cochlear implants will show no satisfying effect. In the future, this research may lead to customised pharmaceutical or genetic therapies with reconstitution of, for example, inner ion homeostasis in patients with mutations in ion channels/transporters or mitochondrial homeostasis in those with mutations affecting oxidative phosphorylation.
This symposium aims to discuss the most relevant aspects related with hereditary hearing impairment with topics of what the speakers “know best”. There will be lectures on the physiology and clinical basis of HL, the revolution of the genetic diagnostic mediated by the marriage of next generation sequencing and bioinformatics, the state‐of‐ the‐art about the current investigation of hearing disorders and their pathophysiology by means of functional test and the generation of animal models and finally, the therapeutic approaches trying to give answer to the question “how far are we of curing hearing loss?.
The workshop is orientated and designed to a wide audience, from clinical geneticists, pediatricians, gynecologists, etc
Thu, 05/03/2015 (All day) - Fri, 06/03/2015 (All day)
Salón de Actos. Fundación Ramón Areces. Madrid