A breakthrough in research from the National Health Research Institutes (NHRI) using whole genome sequencing has allowed a man with Usher syndrome, whose condition had not been understood for 22 years, to seek treatment.
Medical researchers worldwide are currently able to make definitive diagnoses in about 30 percent of patients with rare diseases, but the institutes say that rate can be increased to 63 percent through whole genome sequencing.
Physician Huang Chun-jung (黃俊榕) has Usher syndrome, a condition characterized by partial or total hearing loss and vision loss that worsens over time.
Photo: Chien Hui-ju, Taipei Times
However, until last month he was not sure what caused his vision and hearing loss, which is now about 30 percent of what healthy people have, making it impossible to seek treatment.
A breakthrough last month by NHRI means not only can he now seek treatment, but can also rule out the genetic pre-existence of the condition in his elder sister and her daughter, Huang told a news conference on Saturday.
Several thousand rare diseases cannot be easily diagnosed, leaving doctors with no option except to keep trying different treatments to try to find one that works, NHRI Director Liang Kung-yee (梁賡義) told reporters.
Whole genome sequencing can offer these people answers, and the NHRI has set up an online network and is working with civic foundations to help people with rare diseases and their families, he said.
About 7,000 rare diseases have been identified so far, 80 percent of which are hereditary, and of those, 400 can be treated, but they remain hard to diagnose, the institutes said.
About 5 percent of Taiwan’s population suffer from rare diseases, NHRI researcher Tsai Shih-feng (蔡世峯) said.
His research team has conducted whole genome sequencing on 139 of those people and their close family members, and has made definitive diagnoses in 63.3 percent of the patients, he said.
The team’s current four-year research project uses the NovaSeq6000 system and is focused on analyzing patients with immune-system deficiencies, epilepsy, spinocerebellar ataxia, hearing impairment, Rett syndrome and certain speech-related problems, he said.
One patient his team worked with suffered from uncontrollable use of “inappropriate language,” which was affecting his interactions at work, Tsai said.
A doctor had suggested the man might have frontotemporal dementia, but did not have the means to confirm his diagnosis, but genome sequencing showed that the man suffered from a MAPT gene mutation, Tsai said.
The NHRI’s findings will bring new hope to patients with rare diseases who often “feel as if they are adrift at sea with no treatment to rely on,” Foundation for Rare Disorders director Chen Kuan-ju (陳冠如) said.
‘DENIAL DEFENSE’: The US would increase its military presence with uncrewed ships, and submarines, while boosting defense in the Indo-Pacific, a Pete Hegseth memo said The US is reorienting its military strategy to focus primarily on deterring a potential Chinese invasion of Taiwan, a memo signed by US Secretary of Defense Pete Hegseth showed. The memo also called on Taiwan to increase its defense spending. The document, known as the “Interim National Defense Strategic Guidance,” was distributed this month and detailed the national defense plans of US President Donald Trump’s administration, an article in the Washington Post said on Saturday. It outlines how the US can prepare for a potential war with China and defend itself from threats in the “near abroad,” including Greenland and the Panama
The High Prosecutors’ Office yesterday withdrew an appeal against the acquittal of a former bank manager 22 years after his death, marking Taiwan’s first instance of prosecutors rendering posthumous justice to a wrongfully convicted defendant. Chu Ching-en (諸慶恩) — formerly a manager at the Taipei branch of BNP Paribas — was in 1999 accused by Weng Mao-chung (翁茂鍾), then-president of Chia Her Industrial Co, of forging a request for a fixed deposit of US$10 million by I-Hwa Industrial Co, a subsidiary of Chia Her, which was used as collateral. Chu was ruled not guilty in the first trial, but was found guilty
A wild live dugong was found in Taiwan for the first time in 88 years, after it was accidentally caught by a fisher’s net on Tuesday in Yilan County’s Fenniaolin (粉鳥林). This is the first sighting of the species in Taiwan since 1937, having already been considered “extinct” in the country and considered as “vulnerable” by the International Union for Conservation of Nature. A fisher surnamed Chen (陳) went to Fenniaolin to collect the fish in his netting, but instead caught a 3m long, 500kg dugong. The fisher released the animal back into the wild, not realizing it was an endangered species at
DEADLOCK: As the commission is unable to forum a quorum to review license renewal applications, the channel operators are not at fault and can air past their license date The National Communications Commission (NCC) yesterday said that the Public Television Service (PTS) and 36 other television and radio broadcasters could continue airing, despite the commission’s inability to meet a quorum to review their license renewal applications. The licenses of PTS and the other channels are set to expire between this month and June. The National Communications Commission Organization Act (國家通訊傳播委員會組織法) stipulates that the commission must meet the mandated quorum of four to hold a valid meeting. The seven-member commission currently has only three commissioners. “We have informed the channel operators of the progress we have made in reviewing their license renewal applications, and
RSS