September 18, 2021 Global Usher Syndrome Awareness Day

At ProQR we are getting ready for Usher Syndrome Awareness Day 2021 on September 18th. On this important day and during the month of September we will join the Usher community in raising awareness for this condition. Look to our socials to follow our activities.

Picture of Maartje with text: September is Usher syndrome awareness month. USH is a rare disease affecting hearing, balance and vision.

What is Usher Syndrome Awareness Day?

On the third Saturday in September, we celebrate Global Usher Syndrome Awareness Day. This day was picked as around that time the days get shorter and darker which resembles the vision loss associated with this condition.

What is Usher syndrome?

Usher syndrome is a rare genetic condition that affects vision, hearing and balance. Over 400,000 individuals are affected by Usher syndrome worldwide and it is the most common cause of combined deafness and blindness, or deafblindness. The loss of vision is an eye disease called retinitis pigmentosa (RP), which affects the light sensitive area of tissue on the back of the eye (the retina).

Usher syndrome symptoms

There are three main types of Usher syndrome - type 1, type 2 and type 3. Each of these types has several different genes responsible for causing the syndrome.

Usher syndrome type 1

People with Usher syndrome type 1 (USH1) are usually born with severe hearing impairment and experience problems with balance. The first signs of RP — night blindness and loss of peripheral vision — usually appear in early adolescence.

Usher syndrome type 2

In Usher syndrome type 2 (USH2), newborns have moderate to severe hearing impairment. Symptoms of RP typically start shortly after adolescence. Visual problems progress less rapidly than in Usher type 1, and hearing loss usually remains stable.

Usher syndrome type 3

Children with Usher syndrome type 3 (USH3) are usually born with good or only mild impairment of hearing. Their hearing and vision loss are progressive, starting around puberty. Balance may also be affected.

What causes Usher syndrome?

Usher syndrome is a genetic disease, meaning a mistake, or mutation, in one of the Usher genes is passed down from both parents to a child. Because of the mutation, hearing and vision are affected. Usher syndrome type 2 is most often caused by mutations in a gene called USH2A. The mutation results in a lack of (functional) usherin protein in the retina, causing RP.

Genetic testing

To know what mutation is causing Usher syndrome, genetic testing is necessary. Genetic testing is the only way to receive an accurate diagnosis and will help find out if there are treatments or clinical trials available.

Learn about genetic testing

Is there a cure for Usher syndrome?

The hearing loss can be treated with hearing aids or cochlear implants. But, as for most inherited retinal diseases, there is currently no approved treatment for the vision loss associated with Usher syndrome. At ProQR, we are working hard to change that.

We develop an investigational RNA therapy, called ultevursen (QR-421a) for common mutations causing Usher syndrome type 2 that is currently in the final stages of clinical trials.

RNA therapy

An RNA therapy is designed to correct the mistake, or mutation, in the RNA of someone with a genetic disease. By correcting the mistake, the RNA can then be used to create the protein that the cell needs, taking away the underlying cause of the disease.

Learn more about ultevursen and clinical trials for USH2A associated Usher syndrome.

More on Usher Syndrome

Read Mani's story

We had a chat with Mani Iyer, born and raised in Bombay, India until he moved to the US to work as a computer engineer. It is there that he discovered he has Usher syndrome type 2 and became involved with the Usher Coalition and a published poet. Read Mani’s story

Watch the podcast

In the first ProQR Talks we had the pleasure of speaking with Molly Watt and Rebecca Alexander who both live with Usher syndrome. They share their perspectives on the importance of accessible information in this COVID-19 era and the challenges that come with isolation. Watch the episode

Sirius logo

We are currently planning two Phase 2/3 clinical trials for ultevursen called the Sirius and Celeste studies. Read about ultevursen and the planned studies.

How RNA therapy works

ProQR's mission to develop RNA therapies for rare genetic diseases.

Usher syndrome patient groups

Retina patient groups – Usher specific pages