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.
POLAM KOPITIAM CASE: Of the two people still in hospital, one has undergone a liver transplant and is improving, while the other is being evaluated for a liver transplant A fourth person has died from bongkrek acid poisoning linked to the Polam Kopitiam (寶林茶室) restaurant in Taipei’s Far Eastern Sogo Xinyi A13 Department Store, the Ministry of Health and Welfare said yesterday, as two other people remain seriously ill in hospital. The first death was reported on March 24. The man had been 39 years old and had eaten at the restaurant on March 22. As more cases of suspected food poisoning involving people who had eaten at the restaurant were reported by hospitals on March 26, the ministry and the Taipei Department of Health launched an investigation. The Food and
The long-awaited Taichung aquarium is expected to open next year after more than a decade of development. The building in Cingshui District (清水) is to feature a large ocean aquarium on the first floor, coral display area on the second floor, a jellyfish tank and Dajia River (大甲溪) basin display on the third, a river estuary display and restaurant on the fourth, and a cafe and garden on the fifth. As it is near Wuci Fishing Port (梧棲漁港), many are expecting the opening of the aquarium to bring more tourism to the harbor. Speaking at the city council on Monday, Taichung City Councilor
A fourth person has died in a food poisoning outbreak linked to the Xinyi (信義) branch of Malaysian restaurant chain Polam Kopitiam (寶林茶室) in Taipei, Deputy Minister of Health and Welfare Victor Wang (王必勝) said on Monday. It was the second fatality in three days, after another was announced on Saturday. The 40-year-old woman experienced multiple organ failure in the early hours on Monday, and the family decided not to undergo emergency resuscitation, Wang said. She initially showed signs of improvement after seeking medical treatment for nausea, vomiting and diarrhea, but her condition worsened due to an infection, he said. Two others who
Taiwanese should be mindful when visiting China, as Beijing in July is likely to tighten the implementation of policies on national security following the introduction of two regulations, a researcher said on Saturday. China on Friday unveiled the regulations governing the law enforcement and judicial activities of national security agencies. They would help crack down on “illegal” and “criminal” activities that Beijing considers to be endangering national security, according to reports by China’s state media. The definition of what constitutes a national security threat in China is vague, Taiwan Thinktank researcher Wu Se-chih (吳瑟致) said. The two procedural regulations are to provide Chinese