City's doctor the first in Asia to win leading medical award

A local doctor has been honored with the Award for Clinical Innovation by the Association for Research in Otolaryngology for his achievements in gene therapy for the deaf.

It is the first time that the US-based association has given the award to an expert from Asia.

Dr Shu Yilai, of the Eye, Ear, Nose and Throat Hospital of Fudan University, has been devoted to the genetic treatment of deafness for the past decade.

His team successfully developed a genetic medicine targeting deafness due to OTOF genetic mutation with a precise and minimally invasive drug delivery route and equipment. It is the world's first successful gene therapy for hereditary deafness.

According to ARO, Shu was awarded for his collaborative and continued commitment to research advancing the development and investigation of gene therapy treatments for hearing restoration.

ARO awards experts and scientists through a worldwide nomination, and the final winners are decided by the jury committee. Previously, winners all came from the US and European countries.

Shu being given the ARO is not only a recognition of his team but also a recognition of China's innovation, said the Eye, Ear, Nose and Throat Hospital of Fudan University, which released the news on its public WeChat on Friday night.

There are 26 million people around the world with congenital deafness. About 30,000 children are born deaf in China each year with 60 percent of the cases related to genetic defects, seriously impacting their language, cognition and intelligence development. There are more than 200 genes known related with deafness, but no effective medication so far.

Shu's team has been targeting some 10 genes for research on gene editing and gene therapy, which deliver genes with proper function directly into the inner ear to help patients regain their hearing.

They had a breakthrough in OTOF genetic mutation, an important factor in causing serious hearing loss and language disability among children. It is the reason for 41 percent of Chinese children with auditory neuropathy.

They use an Adeno-Associated Virus (AAV)-based gene therapy, which delivers normal OTOF genes into target cells, to correct patients' defective genes. It is injected into the inner ears to help people with OTOF mutation to regain or improve hearing and language.

The world's first-in-human clinical trial for gene therapy was launched by Shu's team in 2022. The first child who received the injection has regained hearing and is able to have daily conversations, said the hospital, which has completed multiple cases of children and adults of clinical trails.

The first case has been followed for two years and two months, five cases over one-and-a-half years and 10 cases over one year. All patients' hearing remains stable and language abilities have improved.

This innovative work has brought hope to deaf patients, and provides precious experience for other gene therapies for deafness, said the hospital, which has recently set up the Shanghai Rare Disease Gene Editing and Cell Treatment Key Laboratory.

Dr Shu Yilai is the director of the lab, which will set up an innovative system for research, study, medicine and development to deal with cutting-edge technologies in gene therapy and cell treatment. This includes new gene-editing techniques and delivery tools, new target studies and new medicine development and clinical use.