ACTIVITIES

International Symposium on Usher Syndrome and Related Diseases. May 2010

From 27/05/2010 to 29/05/2010

Program

Thursday 27th

09.00 – 09.15 Opening

Session 1: Therapy, today and tomorrow
Chair: William J. Kimberling

09.15 – 09.45  Paul A. Sieving. National Eye Institute. Bethesda, MD, USA.
Clinical trials of CNTF for retinitis pigmentosa

09.45 – 10.15 Nicolás Cuenca. Departamento de Fisiología, Genética y Microbiología, Universidad de Alicante. Alicante, Spain.
Neuroprotective effect of antiapoptotics and antioxidants as a therapeutic option for retinitis pigmentosa

10.15 – 10.45 Tamar Ben-Yosef. Rapaport Faculty of Medicine, Technion-Israel Institute of Technology. Haifa, Israel.
The use of aminoglycosides and their derivatives as a therapy for Usher  syndrome

10.45 – 11.15  David S. Williams. Jules Stein Eye Institute, UCLA School of Medicine.  Los Angeles, CA, USA.
Gene therapy for Usher syndrome type 1B

11.15 – 11.45 Coffee break

11.45 – 12.15  Kerstin Nagel-Wolfrum. Department of Cell and Matriz Biology, Johannes Gutenberg-University of Mainz. Mainz, Germany.
USH1C therapy strategies in the retina

12.15 – 12.45 Peter Francis. Degeneration Center, Casey Eye Institute. Oregon, USA.
Stem cell therapy for Usher 2a

12.45 – 13.15 Eeva-Marja Sankila. Department of Ophthalmology, University of Helsinki, Finland.
Gene therapy for Usher syndrome type 3

13.15 – 14.45 Lunch

Session 2: Psychosocial aspects
Chair: Claes Möller

14.45 – 15.15  Claes Möller. Department of Audiology, Örebro University Hospital. Örebro, Sweden.
State of the art clinical and genetic diagnosis and early intervention in Usher syndrome

15.15 – 15.45  Ilene D. Miner. LCSW Private Practice. Venice, CA, USA.
 Psychosocial impact of Usher syndrome: Adults and the family     

15.45 – 16.15  Coffee break

16.15 – 16.45  Berth Danermark. The Swedish Institute for Disablility Research, Örebro University. Örebro, Sweden.
Usher syndrome and psychosocial health

16.45 – 18.00 Oral session
Chair: Claes Möller

16.45 - 17.00 Shzeena Dad. Kennedy Centret, Glostrup, Denmark.
Identification of a new Usher 3 like locus

17.00 - 17.15 Monte Westerfield. Institute of Neuroscience, University of Oregon. Eugene, OR, USA.
Usher scaffold proteins provide complementary functions in retina and inner ear

17.15 - 17.30 Erwin van Wijk. Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre. Nijmegen, The Netherlands.
The USH2A Interaction Partner NINLisoB associates with BBS6, plays a role in establishing planar cell polarity and functions in cilia assembly

17.30 - 17.45 Ole E. Mortensen and Bettina U. Møller. Information Center for Acquired Deafblindness. Herlev, Denmark.
How do people with Usher Syndrome Live their lives?

17.45 - 18.00 Berth Danermark. The Swedish Institute for Disablility Research, Örebro University. Örebro, Sweden.
Deafblindness and the notion of trust, ontological security, social recognition and self-identity

Friday 28th

Session 3: Natural history studies
Chair: Eduardo Duarte Silva

09.00 – 09.30  Maria Bitner-Glindzicz. Institute of Child Health. London, UK.
Lessons from the UK National Collaborative Usher Study

09.30 – 10.00  Sten Andréasson. Department of Ophthalmology, University of Lund. Lund, Sweden.
Development of the ERG in the first five years of life

10.00 – 10.30 Samuel G. Jacobson. Scheie Eye Institute, University of Pennsylvania. Philadelphia, USA.
Retinal Disease Expression in the Usher syndrome

10.30 – 11.00 Margaret A. Kenna. Department of Otolaryngology, Chilrden's Hospital. Boston, MA, USA.
Vestibular function in children with Usher syndrome: What do we know and how should we study it?

11.00 – 11.30 Coffee break
 

Session 4: Population genetics and epidemiology
Chair: Margaret A. Kenna

11.30 – 12.00 William J. Kimberling. Departments of Ophthalmology and Visual Sciences and   Otolaryngology, University of Iowa Carver School of Medicine. Iowa City, USA and   Boys Town National Hospital. Omaha, USA.
A DNA based screening test for Usher syndrome

12.00 – 12.30 Anne-Françoise Roux. Institut Universitaire de Recherche Clinique. Montpellier, France.
 The utility of databases in diagnosis

12.30 – 13.00 Carmen Ayuso. IIS-Fundación Jiménez Díaz, CIBERER. Madrid, Spain.
Epidemiology of Usher syndrome

13.00 – 13.30 Richard JH Smith. Department of Otolaringology, University of Iowa. Iowa, USA.
Developing more comprehensive genetic screening strategies for congenital sensorineural hearing loss

13.30 – 15.00 Lunch

Session 5: Development of Animal models
Chair: Peter Francis

15.00 – 15.30 Nicholas Katsanis. Duke University Medical Center. Durham, NC, USA.
Modifiers of ciliary disease

15.30 – 16.00  Raymond Iezzi. Department of Ophthalmology, Vitreoretinal Service, College of Medicine, Mayo Clinic. Rochester, MN, USA.
Rat models of retinal degenerations:  therapeutic interventions and clinical correlations. I

16.00 – 16.30 Coffee break

16.30 – 17.00 Arlene Drack. Department of Ophthalmology and Visual Sciences, University of   Iowa. Iowa, USA.
Mouse models of retinal degenerations:  therapeutic interventions and clinical  correlations. II

17.00 – 17.30 Isabel Varela-Nieto. Group of Neurobiology of Hearing. Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-UAM and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER Unit 761). Madrid, Spain.
Non-invasive evaluation of hearing in mouse models of deafness: a focus on IGF-I deficiency

Saturday 29th

Session 6: Diagnostic
Chair: José M. Millán

09.00 – 09.30 Roser González-Duarte. Departament de Genètica. Universitat de Barcelona, CIBERER. Barcelona, Spain.
Challenges of the genetic diagnosis of highly heterogeneous disorders

09.30 – 10.00 Bernhard H. F. Weber. Institute of Human Genetics, University of Regensburg. Regensburg, Germany.
RetChip1.0 – A novel array-based tool for diagnostic testing in hereditary retinal degenerations

10.00 – 10.30  Heidi L. Rehm. Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine. Boston, MA, USA.
The Otochip sequencing array for hearing loss and Usher syndrome

10.30 – 11.00  Ilona Lind. Asper Biotech. Tartu, Estonia.
Asper's diagnostic tool for the Usher syndrome

11.00 – 11.30 Coffee break

Session 7: Molecular and biochemical aspects
Chair: William J. Kimberling

11.30 – 12.00 Hanno J. Bolz. Institute of Human Genetics, University Hospital of Cologne. Köln, Germany.
 New strategies/technologies to identify new genes

12.00 – 12.30 Hannie Kremer. Radboud University Nijmegen Medical Centre. Nijmegen, The Netherlands.
The Usher protein network in the inner ear

12.30 – 13.00  Uwe Wolfrum. Department of Cell Biology, The Scripps Research Institute. La Jolla, CA, USA. 
The Usher protein network in the retina