BC Platforms CEO Tero Silvola announced that Centogene joined the biobank analytics platform BCRquest.com. BC Platforms helps bio companies develop new drugs and conduct clinical trials by providing relevant data. Centogene will provide WGS and WES data related to more than 80,000 rare and neurodegenerative diseases through this partnership.
Researchers at The London Mitochondrial Center in the UK have published a study that found that a multidisciplinary analysis of WGS tests doubled the rate of rare disease diagnosis. They conducted a multidisciplinary analysis of 102 rare disease patients who had undergone WGS testing through the 100,000 Genome Project and had difficulty diagnosing. As a result, the diagnostic rate rose from 16.7% to 31.4%.
Researchers at the University of Exeter, led by Dr. Sarah Flanagan, have identified a genetic cause of congenital hyperinsulinism(CHI). They found that the non-coding variants of the HK1 gene cause CHI by stopping protein expression. Until now, in 50% of children with congenital hyperinsulinemia, the exact genetic cause could not be identified.
The National Institutes of Health (NIH) awarded the University at Buffalo (UB) a five-year $3.8 million grant for improving the accuracy of newborn screening tests for three rare conditions. Over the next five years, 20% of newborns born in the United States will receive tests developed by UB.
Rare disease diagnostics & research3billion participated in the American Society of Human Genetics (ASHG) Annual Conference, the world's largest human genetics and genomics academic conference. Researchers…
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