Boy losing hearing and sight given hope by SNUH researchers and Samsung family donation
![A researcher conducts whole exome sequencing in a molecular testing laboratory at Seoul National University Hospital on Friday. [JANG JIN-YOUNG]](https://koreajoongangdaily.joins.com/data/photo/2024/07/02/71af6cd9-28ae-418e-b144-bab0ad57e132.jpg)
A researcher conducts whole exome sequencing in a molecular testing laboratory at Seoul National University Hospital on Friday. [JANG JIN-YOUNG]
He was diagnosed with Usher syndrome at Seoul National University Hospital (SNUH) after a newborn screening detected his impaired hearing in August 2021. Usher Syndrome, caused by genetic factors, leads to hearing and vision loss.
Yeong-ho cannot hear rumbling or whispering sounds unassisted. Although wearing a hearing aid helps him understand sounds clearly now, the disease and symptoms will worsen with time. When patients enter their teens, they can turn blind as cells that perceive light-related signals become dysfunctional.
“At first, it felt like the sky was falling apart,” Yeong-ho’s mother said. “It was terrifying as such a disease does not run in our family.”
Then, a tiny seed of hope started to sprout in 2022.
Research conducted by Prof. Lee Sang-yeon, a pediatric otorhinolaryngologist at SNUH and Prof. Jo Dong-hyun, who specializes in congenital retinal disease at the same hospital, opened up new possibilities for Yeong-ho.
The two professors conducted whole-genome sequencing using the blood and skin tissue of then-one-year-old Yeong-ho and his parents. Genome sequencing enables doctors to read entire DNA sets in patients' bodies and detect mutations.
Of the two mutations discovered, one could help medical researchers develop an RNA treatment tailored to Yeong-ho.
Three professors — Lee, Jo and Kim Jin-kuk from the Graduate School of Medical Science and Engineering at KAIST — are co-developing the medication.
“It is reassuring that Prof. Lee informs us of test results and progress constantly,” the mother told the JoongAng Ilbo on Friday. She said the family used to suffer in the past when they had “nowhere to obtain knowledge about the disease or discuss treatments.”
She said the family was initially uncertain about the treatment when they were first pitched.
“Although it is unknown how many years it would take to receive the medicine, the family now has hope that further deterioration of my son’s condition might be prevented," the mother said.
![Prof. Lee Sang-yeon, a pediatric otorhinolaryngologist at Seoul National University Hospital, explains the results of genome sequencing to reporters in Seoul. [SHIN SUNG-SIK]](https://koreajoongangdaily.joins.com/data/photo/2024/07/02/0c896f70-b3f4-4046-ae66-46e162d0e13c.jpg)
Prof. Lee Sang-yeon, a pediatric otorhinolaryngologist at Seoul National University Hospital, explains the results of genome sequencing to reporters in Seoul. [SHIN SUNG-SIK]
Lee’s research team conducted whole exome and genome sequencing of 16 patients suffering from Usher Syndrome type 2, which is induced by a USH2A gene mutation. Later, the researchers found 18 mutations, two of which could help develop a tailored RNA treatment.
Usher Syndrome type 2 is relatively severe form of the disease.
One of Yeong-ho’s mutations is identical to one of the two mutations which researchers found promising.
Lee’s team also confirmed that the truncated mutation — where protein synthesis is incomplete — correlates with the symptoms and severity of USH2A-related diseases. Patients with the truncated mutation experienced hearing loss at an earlier age. The more truncated mutations patients have, the faster their health deteriorates.
Patients with a USH2A mutation usually experience retinal impairment after 16. If they have a truncated mutation, symptoms tend to be more severe.
The team's academic research paper was published in a recent edition of Scientific Reports.
“The recent research results show that Korean patients have similar mutated parts as Chinese and Japanese patients,” Prof. Lee said, noting that specific parts in genes where mutations occur vary according to nationalities and races.
The finding suggests new opportunities for Korea, China and Japan to cooperate in treating rare diseases.
Lee has developed a genetic scissor model that targets the most common type of mutation among Korean patients with Usher syndrome. His team will soon conduct animal testing.
Genetic scissor technology cuts a specific part of one’s DNA molecule precisely and rearranges it. This technique can arrest the progression of Yeong-ho's symptoms.
“Without the donation, I would not have dared to start research in precision medicine,” Lee said, noting the fund prompted a “collaborative work” between different medicine fields and specialists.
“Once the results are gathered, [doctors at SNUH] will be able to conduct studies and treatment on hereditary hearing loss and disorder simultaneously.”
The donation funded the costs of gene testing, which ranged between 1 million won and 3 million won per each. Over a hundred patients benefited from the support.
Yeong-ho’s mother, who was informed of the donation from the beginning, said she is “very thankful to late Chairman Lee and medical professionals.” She added that there would be no hope if her son were not on the beneficiary list.
BY SHIN SUNG-SIK [lee.soojung1@joongang.co.kr]
with the Korea JoongAng Daily
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