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One out of every 4,300 people suffers from mitochondrial diseases, which can lead to progressive, incurable diseases
The current genetic testing system cannot diagnose about 40% of patients, which has a major impact on patients, their families and the health services they use
A new study published today in the British Medical Journal (BMJ) brings hope to undiagnosed families and supports the establishment of a national diagnostic plan based on whole-genome sequencing (WGS) in the UK for faster diagnosis and more accurate diagnosis.
Although previous studies based on a small, highly selective cohort have shown that WGS can identify mitochondrial diseases, this is the first time its effectiveness has been tested in the NHS of the national healthcare system
The study was led by researchers from the Mitochondrial Biology Unit of the British Medical Research Council and the University of Cambridge Clinical Neuroscience and Medical Genetics.
A total of 345 participants-from 0 to 92 years old, with an average age of 25-performed the entire genome sequence
Surprisingly, 62.
Professor Patrick Chinnery from the MRC Mitochondrial Biology Research Group and the University of Cambridge Department of Clinical Neuroscience said:
“ We recommend that whole-genome sequencing should be provided as early as possible before invasive tests such as muscle biopsy
Among the researchers' diagnosis results, 37.
However, the majority of the team's diagnoses (62.
Chinnery said: "These patients are referred for suspected mitochondrial diseases, and traditional diagnostic tests are specifically for mitochondrial diseases
Therefore, a small number of newly diagnosed participants are already receiving treatment
The study pointed out that the number of patients who may be diagnosed is relatively high, which reflects the need to increase investment to analyze the uncertain functional impact of new gene variants that may cause disease
It also believes that rapid three-person whole-genome sequencing should be provided to all people who are acutely unwell and suspected of mitochondrial diseases, so that the results can help guide clinical management
KR Schon et al.
