USH Talks

This USH Talk provides a brief overview of the National Center on Deaf-Blindness (NCDB), their six national initiatives and ways in which they can connect families to support and training at the state and national level.

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Speaker Bio:

Megan Cote is the Initiative Lead at the National Center on Deaf-Blindness for Early Identification/ Referral as well as Family Engagement. In her 24 year career in special education, she has been a classroom teacher, educational consultant, worked on multiple educational grants, and directed the Kansas Deaf-Blind Project.

This presentation explains genetic testing of the USH2A gene, as conducted at the Radboud University Medical Center in Nijmegen, Netherlands. The type of DNA defects found in this gene is illustrated, along with their predicted effects on the usherin protein and also methods and problems in the evaluation of potentially deleterious DNA variants.

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Speaker Bio:

Hannie Kremer is the head of the Otogenetics Research Unit in the Hearing & Genes Expert Center (Radboudumc, Nijmegen, The Netherlands). Her research group found that the USH2A gene is much larger than initially determined and importantly contributed to the current insights in the function of Usher proteins in multi-protein complexes in photoreceptor cells as well as hair cells of the inner ear which explains the co-occurrence of retinal degeneration and hearing impairment. Besides on the genetics of Usher syndrome, the current research of Hannie Kremer focuses on the understanding of hereditary deafness. In combination with her extensive research on genotype-phenotype correlations, this has a major impact on molecular diagnostics of deafness and counseling of families. Hannie Kremer received her Master’s degrees in Biology from the Radboud University Nijmegen and her PhD from the same University on molecular genetics in Drosophila. As a postdoctoral researcher she changed her research field to human genetics.

Dr. Gwen Géléoc shares exciting news on progress made towards gene therapy for USH1C. Working with a mouse model of a human mutation, Dr. Géléoc and colleagues delivered a normal copy of the USH1C gene to the inner ear soon after the mice were born. This led to robust improvements enabling profoundly deaf and dizzy mice to hear sounds at the level of whispers and recover proper balance function. Dr. Géléoc is cautiously optimistic that successes in the lab will someday lead to novel therapeutic approaches in the clinic.

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Speaker Bio: Gwenaëlle Géléoc received a PhD, in 1996, from the University of Montpellier II, France. She completed two postdoctoral fellowships, one in the Department of Physiology at University College London and subsequently in the Department of Neurobiology at Harvard Medical School. In 2001, she joined the faculty at the University of Virginia and in 2011, returned to Boston and joined the Department of Otolaryngology at Boston Children’s Hospital and Harvard Medical School.

Dr. Géléoc's research has been largely focused on the physiology of the sensory cells (so called hair cells) of the auditory and balance organs of the inner ear as well as the role played by numerous hair cell genes, many implicated in severe to profound hearing loss and balance disorders and some also expressed in the eye that are implicated in retinal degeneration and blindness leading to Usher syndrome. More recently, a focus of her research has been on the restoration of hearing using gene therapy to target genes responsible for Usher syndrome.

Usher syndrome (USH) is the most common genetic cause of combined deaf-blindness. The hearing loss caused by Usher syndrome (USH) can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable. In this USH Talk, Dr. Erwin van Wijk shows that AON-based splice correction could be a promising approach for the development of a future treatment for USH2A-associated retinitis pigmentosa caused by the deep-intronic c.7595-2144A>G mutation.

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Speaker Bio: Dr. Erwin van Wijk is an Associate Professor affiliated with the department of Otorhinolaryngology of the Radboud University Medical Center Nijmegen. He got his PhD in Medical Genetics (Cum Laude) in 2009. After his PhD, he was awarded with a KNAW travel grant to perform a research fellowship within the group of Dr. Nicholas Katsanis (Johns Hopkins Medical Institute, Baltimore, USA) to acquire the skills of zebrafish maintenance and handling. After this work visit, he successfully introduced the zebrafish model within the Radboud University Nijmegen. Currently, his research focuses on unraveling the pathogenic mechanisms underlying Usher syndrome and the development of a genetic therapy for USH2A-associated retinitis pigmentosa using zebrafish as a model organism.

(Nederlandse Ondertitels) Usher syndrome (USH) is the most common genetic cause of combined deaf-blindness. The hearing loss caused by Usher syndrome (USH) can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable. In this USH Talk, Dr. Erwin van Wijk shows that AON-based splice correction could be a promising approach for the development of a future treatment for USH2A-associated retinitis pigmentosa caused by the deep-intronic c.7595-2144A>G mutation.

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Speaker Bio: Dr. Erwin van Wijk is an Associate Professor affiliated with the department of Otorhinolaryngology of the Radboud University Medical Center Nijmegen. He got his PhD in Medical Genetics (Cum Laude) in 2009. After his PhD, he was awarded with a KNAW travel grant to perform a research fellowship within the group of Dr. Nicholas Katsanis (Johns Hopkins Medical Institute, Baltimore, USA) to acquire the skills of zebrafish maintenance and handling. After this work visit, he successfully introduced the zebrafish model within the Radboud University Nijmegen. Currently, his research focuses on unraveling the pathogenic mechanisms underlying Usher syndrome and the development of a genetic therapy for USH2A-associated retinitis pigmentosa using zebrafish as a model organism.

Gene Therapy for USH2A-Associated Retinal Dystrophy, Erwin van Wijk, PhD (copy)

Gene Therapy for USH2A-Associated Retinal Dystrophy, Erwin van Wijk, PhD (NL) (copy)

Dr. Jacque Duncan gives an overview of an upcoming clinical trial that aims to study the rate of progression of USH2A related retinal degeneration: The RUSH2A Study.

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Speaker Bio: Jacque L. Duncan, M.D., Professor of Clinical Ophthalmology, is the director of the Retinal Degenerations Clinic at the University of California, San Francisco. She graduated with distinction and honors from Stanford University in 1990, then spent a year doing research at the University of Colorado while she applied to medical school. She completed medical school, internship and ophthalmology residency at the University of California, San Francisco. Dr. Duncan completed a medical retina fellowship at the University of Pennsylvania, working with Drs. Samuel G. Jacobson and Stuart Fine. Her fellowship training focused on patients with inherited retinal degenerations including Usher syndrome. She returned to join the ophthalmology faculty at UCSF in 2000. Dr. Duncan has expertise in the diagnosis and management of patients with retinal degenerations including age-related macular degeneration, retinitis pigmentosa, cone-rod dystrophy and Stargardt disease. She has a strong interest in developing imaging and monitoring technologies to better evaluate both the progress of disease and the efficacy of emerging therapies. In collaboration with Austin Roorda, Ph.D., Professor at the University of California, Berkeley School of Optometry, she has studied cone photoreceptors in the eyes of patients with many different types of inherited retinal degeneration. Dr. Duncan has served as the Chair of the FFB Scientific Advisory Board since January 2015.

Dr. Margaret Kenna provides a basic overview of cochlear implants and how those with Usher syndrome might benefit from this technology.

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Speaker Bio: Margaret Kenna received her MD degree from Boston University School of Medicine. She completed an internship and residency in Otolaryngology-Head and Neck Surgery at the University Hospital of Arkansas and a fellowship at in Pediatric Otolaryngology at the Children's Hospital of Pittsburgh. Dr. Kenna has been on the Otolaryngology faculty at Boston Children’s Hospital since 1995. She co-founded the Children’s Hospital Boston Cochlear Implant Program, and was its Director from 1995-2003. She received a MPH in Clinical Effectiveness from the Harvard School of Public Health in 2005. She is the Sarah Fuller Chair for Hearing Loss and Hearing Restoration and currently runs a multi-disciplinary Hearing Loss Program at Boston Children’s Hospital.