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Clinical utility of molecular genetics in otological and audiological patients


Academic year: 2021

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Program FINAL

“Clinical Utility of Molecular genetics in otological and audiological


Meeting Tuesday November 19th 2013

Location: Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen Ø lecture hall 1 Participation is free of charge. Sign up for participation before October 19th 2013 to berit.merete.sachmann.pedersen@regionh.dk for the planning of lunch and coffee.

Key note speakers: Christine Petit and Karen P. Steel, Awardees of the Grethe Lundbeck Brain Prize Foundation Prize 2012.

10.00- 10.10: Opening: Lisbeth Tranebjærg, professor in genetics of hearing and hearing loss, Bispebjerg Hospital/Rigshospitalet

CHAIR: Christian von Buchwald, professor of ENT, Rigshospitalet

10.10- 10.55: Key note speaker Christine Petit, professor, M.D, Ph.D.,Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris: Title: "The outcome of two decades of research on human hereditary deafness: the improvements achieved in the clinical management of deaf individuals and the challenges ahead”

10.55- 11.40: Key note speaker Karen P. Steel, Professor, FMedSci, FRS, Wolfson Centre for Age-Related Diseases, King’s College, London: Title: “What can mouse models contribute to clinical practice?” 11.40- 12.00: Discussion

12.-00- 13.00: Lunch Chair: To be announced

13.00- 13.30: L. Tranebjærg, MD, PhD: What do we know about genetics of hearing impairment in Denmark?

13.30- 13.45: Elsebet Østergaard, MD, PhD, Rigshospitalet/Kennedy Center: "Mitochondrial disorders associated with deafness"

13.45- 14.15: Coffee

14.15- 14.30: Christina Degn, Ph.D. student, Paediatric Audiologopedic Research Unit, University of Southern Denmark, Odense: ”Barriers to participation in newborn hearing screening”

14.30- 14.45: Jacob Tauris, MD, PhD, Department of Audiology, Aarhus Hospital: “OTOF mutation - a case of non-syndromic recessive auditory neuropathy”


14.45- 15.00: Shzeena Dad, M.Sc. ,PhD student, Kennedy Center/Rigshospitalet, Copenhagen: “Spectrum of genetics in Usher syndrome in DK”

15.15- 15.45: Discussion, questions

The meeting is a joint meeting announced to the members of the Danish Society of Otolaryngology Head and Neck Surgery (DSOHH), Danish Society of Ophthalmology, Danish Society for Medical Genetics (DSMG) and Danish Medical Audiological Society (DMAS), Danish Technical Audiological Society (DTAS). The


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