International Symposium on Usher Syndrome

USH 2018 – July 19-21, 2018 in Mainz, Germany

4th International Scientific Symposium on Usher Syndrome, Mainz 2018

On the International Scientific Symposium on Usher Syndrome Sign language and speech to text interpretation (both in English) can be booked free of charge.

Thursday July 19, 2018

11:00 - 13:30 Registration
13:30

Welcome addresses

Sabine Bätzing-Lichtenthäler, State Minister of Social Affairs
Mark Dunning, Usher Coalition, Boston, USA: Patient’s View to Usher Syndrome
14:00 Bill Kimberling, Boys Town, Omaha, USA: A History of Usher Syndrome Research and Prospects of New Research Directions
14:25

Scientific oral presentations: Genetics and Diagnostics of Usher Syndrome

Chair: José Millan, Valencia, Spain

14:25 Anne‐Françoise Roux, Montpellier, France: Genetics of Usher Syndrome
14:55 Carla Fuster García, Valencia, Spain: USH2A Gene Editing Using the CRISPR System
15:10 Isabelle Audo, Paris, France: Clinical Diagnostics of Usher Syndrome
15:35 Margaret Kenna, Boston, US, Challenges of making a correct
diagnosis of Usher Syndrome
15:50 Adam M. Dubis, London, UK: Longitudinal Phenotypic Characterization of Type II Usher Syndrome Caused by Mutations in USH2A
16:05

Coffee break - exhibition

16:45

Scientific oral presentations: Usher Models and Cell and Molecular Biology I

Chair: Gwenaelle Geleoc, Boston, USA

16:45 Aziz El Amraoui, Paris, France: The Retinal Phenotype of Usher Syndrome: Pathophysiological Insights from Animal Models (III)
17:15 Nik Klymiuk, Munich, Germany: Generation and Preliminary Analysis of USH1C Transgenic Pig Model
17:30 Adem Yildirim, Mainz, Germany: The Human Usher syndrome Protein SANS Regulates Pre-mRNA Splicing by Direct Interaction with Key Components of the Spliceosome
17:45 Jun Yang, Salt Lake City, USA: USH2 Protein Complexes in Photoreceptors and Hair Cells
18:10 Jennifer Phillips, Eugene, OR, USA. Analysis of the functional relationships among Usher Type 2 proteins in zebrafish photoreceptors
18:25 Matthew J Tyska, Nashville, USA, USH proteins in the gut
18:55

Poster session - exhibition with wine and cheese - finger food - music

 
Friday July 20, 2018
08:00

Early bird: Posters – exhibition

09:00

Scientific oral presentations: Usher Models and Cell and Molecular Biology II

Chair: Aziz El Amraoui, Paris, France

09:00 Bechara Kachar, Bethesda, USA: USH Proteins in Hair Cell Structure and Function
09:35 Marisa Zallocchi, Omaha, USA: Integrin alpha8 Modulates Hair Cell Maturation Through its Association with Pcdh-15 (USH1F)
09:50 Fred Schwaller, Berlin, Germany: USH2A is a Vibration Sensor Involved in Touch and Hearing in Usher Syndrome
10:05 Mingjie Zhang, Hong Kong, China: Structures of the USH1 Complexes and Their Homologues in other Tissues
10:35 Daniele DellÓrco, Verona, Italy: A Magnesium-triggered Informational Change in CIB2 is Impaired in Usher Syndrome Type 1J
10:50

Coffee break - exhibition

11:20

Scientific oral presentations: Usher Syndrome Models and Therapy I

Chair: Monte Westerfield

11:20 Alberto Auricchio, Naples, Italy: Gene Addition Therapy
11:45 Jeffrey Holt, Boston, USA: Next Generation Gene Therapy Restores Hearing, Balance and Quality of Life in Mouse Models of Genetic Inner Ear Disorder
12:00 Alaa Koleilat, Rochester, MN, USA: Development of the First Pharmacotherapy for the Treatment of Usher Type I Due to Variants in MYO7A
12:15 Kerstin Nagel-Wolfrum, Mainz, Germany: Translational Read-through as Therapy for Usher Syndrome Caused by Nonsense Mutations
12:40 Muna Nassh, Houston, USA: An Usher Syndrome type IIA Knock in Model Exhibits Hair Cell Abnormalities, and Late-onset Retinitis Pigmentosa
12:55

Lunch - poster session - exhibition

14:30

Scientific oral presentations: Therapy for Usher Syndrome II

Chair: : Chair: Mariya Moosajee, UK

 
14:30 Erwin van Wijk, Nijmegen, Netherlands: Antisense Oligonucleotides for the Treatment of Usher Syndrome Caused by Splice Site Mutations
14:55 Jennifer J. Lentz, New Orleans; US, Antisense Therapy Rescues Hearing and Vision in Usher syndrome.
15:10 Erik de Vrieze, Nijmegen NL, Identification of consistently elevated autophagy as pathogenic mechanism of retinal degeneration in Usher
15:25 Yoshikazu Imanishi, Cleveland, US, A small molecule mitigates hearing loss in a mouse model of Usher syndrome III
15:50 Anai Gonzalez Cordero London GB, Using hiPSC-derived retinal organoids to model USH2A pathophysiology.
16:05 Scott Dorfman (Odylia), Atlanta, US, A Non-Profit Mechanism for Moving Proof-of-Concept Studies to Clinical Therapies for Rare Retinal Disorders
16:20 Mike Cheetham, London, United Kingdom: Retinal organoids as disease models
16:45 Poster awards & Wrap-up scientific part: Prospects in human Usher Syndrome research and treatment - Chair: Gwenaelle Geleoc and Uwe Wolfrum
17:45 End of scientific meeting
 

Rhine River Cruise (ticketed event)

18:15 Bus departure to Mainz to boat landing site
19:00 Mainz - St. Goar and Dinner
23:30 Return to Mainz

Registration USH2018 Scientific Symposium

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