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Deep sequencing to identify and characterize deafness genes

Grant number: 13/22538-2
Support type:Scholarships abroad - Research Internship - Doctorate
Effective date (Start): March 12, 2014
Effective date (End): March 11, 2015
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Edi Lúcia Sartorato
Grantee:Fábio Tadeu Arrojo Martins
Supervisor abroad: Karen B. Avraham
Home Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Research place: Tel Aviv University, Israel  
Associated to the scholarship:13/05823-5 - Deep sequencing for identification and characterization of deafness genes, BP.DR

Abstract

Hearing loss is the most common sensory impairment in humans, affecting approximately 10% of the entire world population. The restriction of communication by oral expression results in changes in cognitive and psychological development of the affected individual. In developed countries, one in every 500 individuals has profound/severe bilateral sensorineural hearing loss. Among the causes of hearing loss, more than 60% of cases of congenital hearing loss are genetic. So far there are 150 loci and 103 genes involved in hearing loss, and most of them have at least 20 mutations, such as point mutations, deletions, and insertions that may cause deafness.It is known that 2/3 of the deaf population still has no diagnosis for this disability. This is partly because of the large number of genes related to hearing loss, which is estimated to reach 300 genes (1% of human genes). Conventional molecular techniques do not have the ability to affordably and easily diagnose these mutations.With the emergence of 'high-throughput' (high performance) technologies, new molecular platforms have emerged, allowing for the simultaneous detection of multiple genes and/or changes. One of the most powerful platforms available today is Next Generation Sequencing (NGS). With these, one can scan over 30 Gb of DNA in just one day. Among the variations of existing techniques is Whole exome Sequencing (WES). This variation allows for complete sequencing of several exons of an individual, in order to study alterations in the coding regions of genes. The advantage of this technique is the the speed and the cost to perform the experiment, which ends up being much lower when compared to conventional techniques. Thus, using WES, we have the ability to scan the exons of 284 genes that are related to hearing loss and/or are candidate genes to identify and characterize novel genes that cause deafness in our population. In silico assays and animal models will be performed to validate the changes identified during the sequencing, so as to separate and study frequency in the population. (AU)