Toward a Therapy for a Rare Genetic Disease

Researchers design “mini gene” therapy for severe syndrome that causes blindness and deafness

A close up of a human eye
Image: Zorica Nastasic /iStock/Getty Images E+

At a glance:

  • Researchers have designed a “mini gene” that could eventually be developed into a gene therapy for Usher syndrome type 1F.
  • In mice, the mini gene increased production of an essential protein whose absence contributes to deafness and progressive vision loss in Usher 1F.
  • The work sets the stage for therapies that prevent Usher 1F blindness, for which there are currently no treatments.

Usher syndrome type 1F is a rare but severe genetic disease that causes deafness, lack of balance, and progressive blindness.

Now, a team led by researchers at Harvard Medical School, Massachusetts Eye and Ear, and The Ohio State University has made an important first step toward developing a gene therapy for the disease.

The research, conducted in mice, is described April 26 in Nature Communications.

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The scientists designed a “mini gene” — a shortened version of a gene — to replace the gene that is mutated in Usher 1F. The mutation renders hair cells inside the inner ear incapable of producing a key protein involved in sound transmission. In mice, the mini gene increased production of the missing protein, enabling the hair cells to sense sound and restoring hearing.

Because vision loss in Usher 1F involves a slightly different form of the same protein, the researchers say the same approach may be useful for preventing blindness.

“Patients with Usher 1F are born with profound hearing loss and progressive vision loss, and so far we have been able to offer very few solutions to these families,” said co-senior author Artur Indzhykulian, HMS assistant professor of otolaryngology–head and neck surgery at Mass Eye and Ear.

 The most exciting aspect of our findings was that mice that had been completely deaf could now hear almost as well as normal mice.

Maryna Ivanchenko

Lead author, instructor in neurobiology at HMS