Julia Karow

1 week ago | genomeweb.com | Julia Karow

NEW YORK – Manufacturers of long-read sequencing platforms have long touted the technology's potential in rare disease diagnostics because it can detect structural variants, short tandem repeats (STRs), and methylation signatures in a single assay. However, cost, informatics requirements, and other implementation hurdles have hindered its wide adoption so far.

1 week ago | genomeweb.com | Julia Karow

MILAN – Rare disease diagnostics has immensely benefitted from whole-exome or whole-genome sequencing in recent years, but for more than half of patients, a causal variant still cannot be determined, though many receive back variants of unknown significance (VUS). Functional assays of various kinds can help assess and validate VUS and candidate variants.

1 week ago | genomeweb.com | Julia Karow

MILAN – The Generation Study, a large-scale newborn research study in England that aims to test genome sequencing for screening newborns for rare, treatable genetic conditions, has started reporting its first results to participants. The study, which began enrollment about a year ago, plans to sequence the genomes of at least 100,000 newborns in order to detect genetic variants associated with more than 200 childhood-onset, actionable genetic conditions.

1 week ago | genomeweb.com | Julia Karow

MILAN – A donor to a European sperm bank has transmitted a likely pathogenic variant for Li-Fraumeni syndrome, a genetic condition that predisposes carriers to a variety of cancers, to almost two dozen children he fathered, of whom 10 have developed cancer so far. The man is healthy, and his sperm is mosaic for the variant, which had not shown up in any cancer patients at the time of his donation.

1 month ago | genomeweb.com | Julia Karow

NEW YORK – In less than six weeks, the Trump Administration canceled more than $544 million worth of unexpended funding from active National Institutes of Health grants, according to an analysis by researchers at Yale School of Medicine and Harvard Medical School. While the study didn't shed light on the types of research topics targeted, it is one of the first attempts to systematically tally the effects of President Trump's cuts to ongoing NIH funding.