Professor Margaret Kenna - Boston Children’s Hospital

What is Usher Syndrome? What is Retinitis Pigmentosa?

30 MINUTES

Lanya McKittrick & Krista Vasi - Usher Syndrome Coalition USA

The Global Usher Community, The Importance of Registries

30 MINUTES

Q&A Usher Basics with Margaret and Lanya

30 MINUTES

Professor Margaret Kenna

Professor Margaret Kenna is Director of the Hearing Loss Program in the Department of Otolaryngology and Communication Enhancement at Boston Children’s Hospital, Professor of Otolaryngology at Harvard Medical School, co-founder of the Cochlear Implant Program, and a founding member of the Harvard Hereditary Deafness Center. Professor Kenna is also a founding Board Director of the Usher Syndrome Coalition in USA and has a longstanding commitment to the global Usher community through her extensive research in the area.

What is Usher Syndrome? What is Retinitis Pigmentosa?

Professor Margaret Kenna will identify the basics of Usher syndrome and the variation in clinical presentation of the 3 different subtypes of the condition.  Sample audiograms will be used to highlight the similarities and differences between other common causes of hearing loss in the paediatric population, and when referral for further testing is warranted.  The presentation will also explore the genetics of Usher syndrome, autosomal recessive inheritance patterns, vision impairment caused by retinitis pigmentosa and the implications of a dual sensory loss on the development of the child.  Availability of hearing technology and audiological outcomes for the paediatric patient will also be a highlight of this presentation.

Krista Vasi

Krista Vasi is the Executive Director at the Usher Syndrome Coalition, a global organisation working to find and support every individual and family affected by Usher syndrome. Krista joined the Usher Syndrome Coalition in an official capacity in 2013 after volunteering since 2008, bringing a wealth of experience in public administration, development, fundraising and management to the community.

Dr. Lanya McKittrick

Lanya McKittrick is the newly appointed Chair of the Usher Syndrome Coalition in the USA after many years on the Board of Directors. She co-founded the Hear See Hope Foundation to raise awareness and funding for Usher research and to support families through their Usher journey after two of her children were diagnosed with the condition. Lanya also holds a Ph.D. in Special Education with a focus on deafblind research.

The Global Usher Community & the Importance of Registries

The Usher Syndrome Coalition is a global organisation with the mission to raise awareness and accelerate research for the most common genetic cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher syndrome.  Krista Vasi will detail the history and growth of the organisation, and the benefits of connecting the global Usher community to ensure families and clinicians can exchange knowledge about best practices, leading to better outcomes for people with Usher syndrome.

Dr. Lanya McKittrick will discuss the importance of international registries for rare diseases such as Usher syndrome as the work of researchers can be jeopardised because they have access to too few people with Usher syndrome. The goal of the USH Trust is to voluntarily register everyone with Usher syndrome, worldwide, and to be the bridge between the research community and the Usher syndrome community.

By encouraging patients to register with the USH Trust, they will become part of the largest global network of individuals with Usher syndrome and have the opportunity to contribute to the world’s understanding of Usher syndrome, will be ensured of receiving information on the latest research, treatments and clinical trials, and will be the first to learn about opportunities to participate in research.