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10/14/2017  |   8:40 AM - 9:45 AM   |  East Ballroom at Shalala Student Services Building

Genetic Hearing Loss: Global Impact and Screening Strategy for Deafness Genes

Inherited deafness demonstrates extreme heterogeneity, making single gene testing inefficient. More interestingly, several mutations from a few genes can be responsible for more than half of genetic deafness cases in many populations in the world. Therefore, sequential screening strategy for genetic diagnosis of hereditary HL and new genes identification using methods such as Genechip and target enrichment/next generation sequencing (NGS) is a time saving and cost- effective alternative for the translation of research data into patient care. This represents a successful example of precision medicine. We aim to identify the genetic cause of non syndromic (NS) HL through an integrated paradigm combining microarray, whole Exome sequencing (WES) and a hearing-centric database. A DNA microarray panel (Miami-CapitalBio) is being applied as the initial screening tool to simultaneously detect the 9 most common deafness-causative mutations in 5 genes. The negative cases are further tested using a custom capture/NGS gene panel (MiamiOtoGenes) composed of 180 known deafness genes (Agilent SureSelect DNA Design). Patients for whom the two panels do not provide a meaningful result, WES is performed to achieve a comprehensive interrogation of the full spectrum of variants to identify single-nucleotide variants (SNVs), insertion/deletions (Indels) and copy number variations (CNVs). The multidisciplinary approach is an effective way to bring the sequencing data to clinical practice for the clinical diagnosis and management of deaf and hard-of-hearing families. To analyze the genotype-phenotype relationship, we have created a web-based resource GeneHeal, which links auditory phenotypic information of the deaf patients enrolled in the study to the respective pathogenic genomic variants. Both databases are accessible through the Miami Genetics of HL Resource (GeneHeal) at http://hihg.med.miami.edu/deafness/geneheal and are open for researchers who would like to contribute their data. It provides search capabilities to end users making it an efficient data repository and query tool for the researchers worldwide.

• single gene testing inefficiency in inherited deafness
• using Genechip
• Identifying genetic cause of NS

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Xue Liu (POC,Primary Presenter), University of Miami Miller School of Medicine, xliu@med.miami.edu;
Xue Zhong Liu,. M.D., Ph.D., FACS., an internationally renowned surgeon-scientist, is the Leonard M. Miller Professor and Vice Chair of Otolaryngology and Professor of Human Genetics, Biochemistry and Pediatrics. Dr. Liu is also Vice Chair of Research in the Department of Otolaryngology at the University of Miami Miller School of Medicine. Dr. Liu is Director of the Director of the Center for Communication Sciences & Disorders. Dr. Liu is an active member of the American Academy of Otolaryngology Head and Neck Surgery, fellow of American College of Surgeons, American Rhinological Society, American Academy of Otolaryngic Allergy, Florida Society of Otolaryngology/Head & Neck Surgery, Greater Miami ENT Society, American Society of Human Genetics, the Association for Research in Otolaryngology (ARO), and President of American Chinese Genetic Association (ACGA) (2014-2016) Dr. Liu graduated from the West China University of Medical Sciences in Chengdu, China. He completed a general surgery internship and otolaryngology residency at the University of Miami. He obtained his Ph.D in Human Genetics in the University of Manchester and Postdoctoral training in Molecular Genetics at MRC Mammalian Unit, Oxford, in England. He is fully licensed and board certified in Otolaryngology. He specializes in the treatment of hearing loss and ear diseases. He was selected by his peers as one of the “Best Doctors in America”. Dr. Liu's research focuses are on novel disease gene targets and treatment in hearing loss. He has had a career long interest in genetic deafness and has made many significant contributions to our understanding of the identification of deafness genes and to molecular pathogenesis of deafness and deafness as well as and clinical diagnosis/management of deafness over the past decade. Dr. Liu is the author of more than 150 scientific papers in top journals and medical book chapters covering a wide range of topics in genetics, molecular biology, clinical diagnosis, and treatments in otolaryngology. His research activities on hearing loss have been well funded by the National Institute of Health (NIH). He is one of the top NIH funded Otolaryngologists. He has received national and international recognition for his clinical activities, teaching and research in the field of hearing loss. He has also been the guest speaker at numerous national and international otolaryngology meetings presenting his research accomplishment.

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AAA DISCLOSURE: Financial - No relevant financial relationship exists.