Welcome to the 9th Molecular Biology of Hearing and Deafness Conference June 22 – 25, 2013 Li Ka Shing Center for Learning and Knowledge, Palo Alto, CA • Stanford University i Acknowledgements We would like to thank the following sponsors for their support of this conference. Their generous financial support makes this conference possible. ii 9th Molecular Biology of Hearing and Deafness Conference PROGRAM Saturday, June 22 Page 3:00 - 5:30 PM Registration 4:00 PM Welcome Reception 5:00 PM Opening Keynote: A bright future for research on communication 1 and communication disorders, James F. Battey, Jr. 6:00 PM Adjourn Sunday, June 23 Page 8:00 AM Registration and Breakfast 8:55 AM Welcome to Stanford School of Medicine, Lloyd Minor 9:00 AM Keynote: Genomics for personalized medicine and human health, 2 Michael Snyder 9:30 AM Genetic testing for deafness: The future is now, Richard J.H. Smith 3 9:45 AM Identification of the gene causing nonsyndromic deafness DFNB86, 4 Atteeq Rehman 10:00 AM “A complex strategy for complex traits”: identification of new genes 5 involved in hearing function and age-related hearing loss, Giorgia Girotto 10:15 AM How much of nonsyndromic deafness is actually syndromic? Thomas B. 6 Friedman 10:30 AM Break & Posters - Group 1 iii Sunday, June 23 Page 11:00 AM Targeted exon capture and massive parallel sequencing identifies the 7 mutated genes in chinese deaf families, Huijun Yuan 11:15 AM Sound encoding: From molecular physiology to disease and restoration, 8 Tobias Moser 11:30 AM Composition and function of the synaptic ribbon, Albena Kantardzhieva 9 11:45 AM Lack of brain-derived neurotrophic factor in the cochlea but not in the 10 brain hampers inner hair cell synapse physiology, but protects against noise induced afferent fiber loss, Marlies Knipper 12:00 PM Cochlea spiral ganglion cell degeneration and hearing loss as a 11 consequence of satellite cell death in saposin B KO mice, Lawrence R. Lustig 12:15 PM Lunch & Posters – Group 1 1:30 PM The auditory hair bundle: genetics as a gateway to the understanding of 12 its multifaceted properties, Christine Petit 1:45 PM The mechanotransduction machinery of hair cells, Ulrich Mueller 13 2:00 PM Hair cell mechanotransducer adaptation is not driven by calcium entry 14 in mammalian auditory hair cells, Anthony J. Ricci 2:15 PM The function of transmembrane channel-like genes 1 and 2 in 15 mammalian hair cell mechanotransduction, Jeffrey R. Holt 2:30 PM The role of transmembrane channel-like proteins in cochlear hair cell 16 transduction, Robert Fettiplace 2:45 PM FGFR1 signalling assembles a kinocilia-specific transport particle to 17 traffic protocadherin-15 during inner ear hair cell specialization, Raj K. Ladher 3:00 PM Break & Posters – Group 1 iv Sunday, June 23 Page 3:30 PM Genome-wide association study for age-related hearing loss in the 18 mouse: A meta-analysis, Rick Friedman 3:45 PM Genetic variation in ESRRG is associated with adult hearing status in 19 humans and its targeted deletion causes hearing loss in mice, Lisa S. Nolan 4:00 PM Exome sequencing fills missing pieces of the auditory puzzle: 20 implications for deafness, Karen B. Avraham 4:15 PM A Y-linked form of hereditary hearing loss in an Italian family, 21 Mariateresa Di Stazio 4:30 PM Mutation of HOMER2 causes autosomal dominant non-syndromic 22 hearing loss, Hela Azaiez 4:45 PM Supporting diagnostics for hearing loss through next-generation 23 sequencing and community data sharing, Heidi Rehm 5:00 PM Screening strategy for molecular diagnosis of deafness: From social 24 health insurance based screening to massively parallel DNA sequencing, Shin-Ichi Usami 5:15 PM GJB2 testing of infants with sensorineural hearing loss, Mariia Lalayants 25 5:30 PM Adjourn Monday, June 24 Page 8:00 AM Registration and Breakfast 8:55 AM Organizational announcements 9:00 AM Keynote: Population genetics in the personal genome era, Carlos D. 26 Bustamante 9:30 AM Proteins of the hair bundle, Peter Barr-Gillespie 27 v Monday, June 24 Page 9:45 AM CLIC5 interacts with taperin at the base of stereocilia, Inna A. 28 Belyantseva 10:00 AM Ectopically expressed Tectb localises to the distal tips of sensory hair 29 bundles, Guy Richardson 10:15 AM Defects in protein complex assembly and ER stress as the proximal 30 cause of Usher Syndrome, Monte Westerfield 10:30 AM Break & Posters – Group 2 11:00 AM Genomic and pharmacological studies suggest multiple roles for Notch 31 signaling in the avian inner ear, Mark Warchol 11:15 AM Notch inhibition generates hair cells in the adult mouse crista, Olivia 32 Bermingham-McDonogh 11:30 AM Single cell transcriptional profiling of native otocyst cells and 33 comparison with in vitro generated murine otic progenitor cells, Robert Durruthy-Durruthy 11:45 AM Morphogen gradients regulate tonotopic identity along the chick basilar 34 papilla, Matthew Kelley 12:00 PM Identification of four novel genome-wide significant loci in sporadic 35 Meniere’s disease, Jose A. Lopez-Escamez 12:15 PM Lunch & Posters – Group 2 1:30 PM Sema3f-Nrp2 interactions control spiral ganglion neuron targeting to 36 inner hair cells, Thomas M. Coate 1:45 PM Wbp2-deficient mice show progressive high-frequency hearing loss 37 and abnormal cochlear innervation, Karen Steel 2:00 PM Cochlear gene expression differences in Diap3 (Diaphanous-homolog- 38 3) transgenic mice, Marci M. Lesperance 2:15 PM ErbB signaling within Schwann cells controls quiescence of zebrafish 39 mechanosensory progenitor cells through regulation of Wnt and FGF signaling, Mark Lush vi Monday, June 24 Page 2:30 PM ILDR1 is required for inner ear and neuromast development in 40 zebrafish, Qing Sang 2:45 PM Epigenetic regulation of Atoh1 expression during development and 41 regeneration of the mouse Organ of Corti, Zlatka P. Stojanova 3:00 PM Break & Posters – Group 2 3:30 PM FGF signaling in Muenke syndrome model hearing loss and rescue, 42 Suzanne L. Mansour 3:45 PM Concomitant differentiation of mouse embryonic stem cells into 43 neuron-like cells and schwann cell-like cells in a microfluidic device to develop approaches for functional repair of the inner ear, Kate F. Barald 4:00 PM Phage display discovery of rare peptides to support drug transport 44 through the tympanic membrane, Allen Ryan 4:15 PM Gene expression in the postnatal cochlea in hearing and deafened rats, 45 Steven Green 4:30 PM Proteome biology of noise induced hearing loss, Jeffrey Savas 46 4:45 PM Neurotrophin gene therapy via electroporation enhances the cochlear 47 implant neural interface, Gary D. Housley 5:00 PM In vivo reprogramming of inner border and phalangeal cells to the 48 inner hair cell fate by ectopic Atoh1 expression in the postnatal mouse cochlea, Jian Zuo 5:15 PM Adjourn 6:30 PM Banquet at Cantor Art Museum (Museum opens at 6:00 PM) 9:30 PM Adjourn Tuesday, June 25 Page 8:00 AM Registration and Breakfast 8:55 AM Organizational announcements vii Tuesday, June 25 Page 9:00 AM The tetraspan TMHS binds PCDH15 and regulates mechanotransduction 49 in cochlear hair cells, Wei Xiong 9:15AM Acf7 is a hair-bundle antecedent, positioned to integrate 50 cuticular plate actin and somatic tubulin, Brian McDermott 9:30 AM Localization of stereocilia proteins by structured illumination 51 microscopy (SIM), Matthew Avenarius 9:45 AM Genetic dissection of the vibratory modes of the organ of Corti 52 using in vivo imaging, John S. Oghalai 10:00 AM Ensemble and single molecule kinetics of purified myosin-15 53 demonstrate it is a bona-fide molecular motor specialized for transport within stereocilia, Jonathan E. Bird 10:15 AM Tricellulin integrates bicellular and tricellular tight junctions into 54 a functional complex essential for cochlear hair cell survival, Saima Riazuddin 10:30 AM Break 11:00 AM Expression profiling of FACS-sorted hair cells with deep 55 sequencing leads to the identification of a stereociliary actin- binding protein, Déborah Scheffer 11:15 AM Pitch: A model of sensorineural deafness identifies Neuroplastin 56 as essential for inner hair cell maturation and function, Lea Carrott 11:30 AM Gene expression profiling of young and adult mouse cochlea by 57 RNA-Seq in strains with normal and age-related hearing loss, Anne Giersch 11:45 AM MET channel-independent uptake of aminoglycosides by cochlear 58 hair cells, Hongzhe Li 12:00 PM Following intracellular calcium during aminoglycoside-induced 59 hair cell death, David Raible 12:15 PM Business Meeting 12:30 PM Final Adjournment viii A BRIGHT FUTURE FOR RESEARCH ON COMMUNICATION AND COMMUNICATION DISORDERS JAMES F. BATTEY, JR. NIDCD The National Institutes on Deafness and Other Communication Disorders (NIDCD) is one of 27 Institutes and Centers that comprise the National Institutes of Health. This presentation will highlight research progress in the seven mission areas relevant to the Institute: hearing, balance, smell, taste, voice, speech, and language. Even in a constrained Federal budget environment, the research community supported by NIDCD continues to make remarkable progress towards achieving a better understanding of human communication and its disorders. 1 GENOMICS FOR PERSONALIZED MEDICINE AND HUMAN HEALTH 1 1 RAJINI R. HARAKSINGH, FERESHTEH JAHANIANI KENARI, JUAN RODRIGUEZ- 2 3 4 5 PARIS, JOEL GELERNTER, KARI C. NADEAU, JOHN S. OGHALAI, IRIS 2,4 1 SCHRIJVER, AND MICHAEL P. SNYDER 1 Department of Genetics, Stanford University School of Medicine, Stanford, California, USA. 2 Department of Pathology, Stanford University School of Medicine, Stanford, California, USA. 3 Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA. 4 Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.