Upcoming Usher events relevant to the CI Community

Dominique shares all these interesting activities about Usher

Usher 1B Virtual Workshop, 13 Sept 2021, and USH1b Pre-Workshop Research Survey

This meeting will be held in virtual format, is hosted by the Foundation Fighting Blindness and supported by Save Sight Now. It will be co-chaired by Dr. Shannon Boye and Professor José-Alain Sahel, leaders in the USH1B field, and will bring together leading experts from academia and industry and affected individuals and their families (free event).

More info and registration here:

https://www.fightingblindness.org/usher1b-workshop

The Pre-Workshop Survey and can be accessed here:

https://www.surveymonkey.com/r/QGJ52KK

International Usher Info Scientific Symposium (English) 6-8 Oct 2021, 3.00pm-6.30pm CET each day and Patient Symposium (French) 9 Oct 2021, 2.00pm-6.00pm, both online

French simultaneous transcription & French sign language will be offered for the Patient Symposium. Translation options (English) are being explored.

http://pro.usherinfo.fr/usher-info-symposium-2021/scientific-program/ English

http://www.usherinfo.fr/symposium-2021/programme/ French

http://pro.usherinfo.fr/usher-info-symposium-2021/registration/ English

http://www.usherinfo.fr/symposium-2021/inscription/ French

Australian Usher Syndrome Research Webinar from 14 Aug 2021 Presentations now available

UsherKids Australia update their community on the various Australian research projects currently working on treatments for retinitis pigmentosa and Usher syndrome. To view the presentations, register online www.usherkidsaustralia.com

Why this matters to all of us

1/3 of the genes involved in hearing loss account for Usher syndrome.

10% of children with congenital profound hearing loss/deafness have Usher Syndrome Type1 (USH1).

Over 50% of individuals with combined vision and hearing loss leading to deaf blindness have Usher Syndrome Type1, 2 or 3 (USH1, USH2, USH3).

These numbers are expected to rise with higher detection rates through referral of families to genetic analyses – referral to genetic testing being done right after a hearing disorder has been diagnosed through standard of care Newborn Hearing Screening or, later in life, when first signs of vision loss occur in deaf or hearing impaired young children or teenagers.

Up to 40% of all reported Usher cases account for USH1, up to 60% for USH2, up to 3% for USH3.

Up to 25% of all reported Usher cases account for USH1b, up to 50% for USH2a.

Each individual with USH1 (characterized by congenital deafness and early onset vision loss) is a CI candidate as a baby.

Each individual with USH2 or 3 (born with mild or moderate progressive hearing loss and later onset of vision loss) might become a CI candidate earlier or later in their lives.

This is why it is crucial to reach out to the CI Community to get them involved in Usher events!

Dissemination to interested groups and individuals, to your membership and beyond, is highly welcome!

* Affiliations Dominique Sturz

Vice-Chair Pro Rare Austria – Austrian Rare Disease Alliance
Volunteer at EURORDIS European Organisation of Rare Diseases Task Forces (HTA,…)
Member of core team European Patient Academy for Therapeutic Innovation EUPATI Austria
Patient Advocate at European Reference Network for Rare Eye Diseases ePAG ERN-Eye
Coordinator Retina International USH SIG – Usher Special Interest Group
EURORDIS summer school & winter school graduate
EURORDIS digital school graduate
Registered patient expert for Usher Syndrome & hearing related disorders at EMA
Co-founder Forum Usher Deafblind Austria 2016 (vice-chair till 2017)
Owner Usher Initiative (Austria) since 2014
Delegate to European Association for Cochlear Implant Users Euro-CIU 2005-2015
CI Ambassador at Cochlea Implantat Austria CIA since 1997, Usher Contact since 2005

Business Trainer (Self-, Time- Team-management), self-employed
Translator & Interpreter GE-FR-EN by training
Born 02 Mai 1964 in Vienna, married, 2 adult daughters