RI USH SIG Winter Newsletter

On December 2nd Retina International sent the RI USH SIG Winter Newsletter

We are happy to send you the RI USH SIG Winter Newsletter providing you with an update of the latest and upcoming news relevant for people living with Usher Syndrome and with a resource file on USH subtypes, genetic testing and USH genes.

This Newsletter has been written by Dominique Sturz (AT), Melissa Chaikof (USA), Carol Brill (IRL) and Dario Sorgato (IT) and checked for accuracy and reliability by Pr. Isabelle Audo (FR).

You may want to forward this Newsletter to interested parties or publish it on your website or translate it into other languages, please respect copyright and authors’ rights on intellectual property.

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You can subscribe from future newsletters about Usher Syndrome here

RI USH SIG – Special Interest Group for Usher Syndrome at Retina International: Update on events & resource file on USH subtypes, genetic testing & USH genes

RI USH SIG

Dominique Sturz, Austria (coordinator)
Melissa Chaikof, USA
Carol Brill, Ireland
Dario Sorgato, Italy

We are happy to issue our Winter Newsletter providing you with an update of the latest and upcoming news relevant for people living with Usher Syndrome and with a resource file on USH subtypes, genetic testing and USH genes.

Save the date USH related events 2020

June 4-6. Reykjavík, Iceland.
RIWC 2020 – 21st Retina International World Congress
Retina International World Congress brings together some of the world’s foremost retinal scientists and clinicians along with the global leaders in patient advocacy and peer support. The Nordic Ophthalmology Congress 2020 will take place at the same venue and time as RIWC 2020. During the events we are planning to hold an Usher Syndrome satellite meeting, details to be announced soon. www.riwc2020.is

June 26-27. Paris, France. 2020 International Usher info Symposium

Scientific & Patient Sympsoium organised by Fondation Pour l’Audition and Fondation Voir et Entendre in the framework of the LIGHT4DEAF project dedicated to Usher syndrome. http://pro.usherinfo.fr/2020-international-usher-info-scientific-symposium/

July 10-11. Austin. TX, United States

USH Connections Conference – Usher Syndrome Coalition

Learn the latest on developing treatments from leading US researchers and connect with impacted individuals, their families, and professionals serving the deafblind community.
https://www.usher-syndrome.org/our-story/ush-connections-conference-summaries.html

Recaps Autumn 2019

Inaugural Meeting of Retina International Special Interest Group on Usher Syndrome in Paris, 21 September 2019, Global Usher Awareness Day

At the occasion of Global Usher Syndrome Awareness Day on Saturday 21 September, the USH SIG Committee came together for a meeting in the Fondation de l’Audition in Paris.  Dominique Sturz (Austria), Carol Brill (Ireland) and Dario Sorgato (Italy) enjoyed the warm welcome from hosts Marie-Josée Duran and Salma Hazgui of the Institut de l’Audition. Our fourth Committee member Melissa Chaikof (USA) joined the meeting by teleconference, thanks to the fantastic facilities at the venue. We were also pleased to welcome Professor Isabelle Audo of the Institut de la Vision, and Alice Lapujade (France). 

The group discussed at great length the structure and strategy of USH SIG and we are happy to outline the following:

1. Proclamation: “We are a patient led group working together towards the provision of up to date relevant information about research and about expert research centers for people living with Usher Syndrome and advocating about the development of therapies for the global Usher Syndrome community.”

2. Establishment of a Scientific Advisory Panel to ensure that information shared by USH SIG on scientific research on Usher Syndrome is accurate

3. Calendar of Events – to keep the Usher community informed of relevant events

4. Communication Strategy – information will be shared in a Newsletter format with national organisations associated with Usher Syndrome

ERN Eye Workshop on Clinical Trials & Research, 21-22 Nov 2019, Strasbourg

The workshop of the European Reference Network for Rare Eye diseases was preceded by the 2^nd Sensgènes Annual Day, where the French affiliated center for Rare Sensory Diseases gave an update on the state-of-the-art research (ear and eye) done in France and with international collaboration.

At the ERN Eye workshop member states presented their updates on clinical trials of gene therapies and about access to and reimbursement of Luxturna (the first approved gene therapy for a rare eye disease: LCA due to REP65 mutation). Also treatment options under development in collaboration with international partners were discussed. For information on how to access genetic testing and clinical trials see our resource file about USH subtypes, USH genes and genetic testing below. For more info about clinical trials and full members and affiliated partners of ERN Eye see https://www.ern-eye.eu/map-of-the-centers-and-clinical-trials. An update about new full members will be available in 2020.

Resource file on USH subtypes, genetic testing & USH genes

Why is genetic testing important? Today, many promising treatments for Usher Syndrome in the lab and even in clinical trial are gene-based. Unless you know your subtype and even your mutation, you cannot know if you are eligible for a clinical trial. There are different types of potential gene therapies. Those that entail replacing the entire affected gene are not dependent on mutation, but some, such as gene editing or drugs that target specific mutations, require knowing not just the gene but also the mutation. In any case a genetically confirmed diagnosis is required to be eligible for clinical trials and also for upcoming treatments that are not mutation-specific. This is also for the patients’ safety, because interventions and treatments can be harmful in cases of differential diagnosis with similar phenotypes (same symptoms).

In the EU most countries’ health plans cover genetic testing if you are referred by your ENT specialist or ophthalmologist or retinal specialist to an expert center providing genetic testing. In some EU countries a hearing disorder diagnosed at newborn hearing screening is an indication for referral to genetic testing (Usher genes included). ERN Eye works on a common registry for Rare Eye Diseases, where member institutions will feed anonymized data with the patient’s consent.

In the US, some insurance companies cover genetic testing. If an insurance company does not, Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA®, offers an open access, no-cost genetic testing program called the My Retina Tracker Program® starting October 21^st for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). For eligibility criteria see https://blueprintgenetics.com/my-retina-tracker-program/

USH Genes

Amendment from 26 Nov 2019 to our Autumn Newsletter on USH gene therapy:

USH2C: A clinical trial based on mini-gene therapy and co-funded by CUREUsher (UK, IRL) and Stichting Ushersyndroom (NL) will be run at the Radboud

University Medical Center (NL), more USH subtypes to come soon.

You can download our Autumn Newsletter on gene therapy for Usher Syndrome here: http://www.retina-international.org/ri-ush-newsletter-pdf/

We are very committed to making our communications accessible.  If you wish to receive this newsletter in an alternative format, please let us know by emailing [email protected] and we will endeavour to issue future newsletters in your preferred format.

We hope you enjoyed our newsletter and resource file. We will come back to you with interesting news very soon and wish you a wonderful Christmas time and a Happy New Year!

To make sure not to miss out any important news about USH events, resource files, as well as research, clinical trials and surveys subscribe here: http://www.retina-international.org/updates-from-the-ri-ush-special-interest-group/

This Newsletter has been written by Dominique Sturz (AT), Melissa Chaikof (USA), Carol Brill (IRL) and Dario Sorgato (IT) and checked for accuracy and reliability by Pr. Isabelle Audo (FR).

You may want to forward this Newsletter to interested parties or publish it on your website or translate it into other languages, please respect copyright and authors’ rights on intellectual property.

© RI USH SIG