Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis. Researchers in the U.K. have now developed a new framework for analyzing sequence data at a cohort level. Applying this method to almost 35,000 undiagnosed rare disease patients led to the identification of 141 new disease-gene associations.

Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis.

Reflecting a positive reception in the market, Kestra Medical Technologies Ltd. increased the target haul for its planned IPO from $100 million to between $140 million and $160 million in an S-1 amendment filed Feb. 26. The company will offer 10 million shares at $14 to $16 per share, with the final price to be set the week of Mar. 3, just ahead of the offering date.

Scientists at the University of Aberdeen developed a new scanner that distinguishes breast tumor material from healthy tissue more accurately than current magnetic resonance imaging (MRI) methods.

Organox Ltd. raised $142 million in financing to accelerate the growth of its Metra platform that preserves and transport livers for transplantation. The funds will allow the company to strengthen its ability to support current customers, expand its customer base and enter new markets such as Canada and Australia, where it earned regulatory approvals within the last year, Steve Deitsch, CFO of Organox, told BioWorld.

Berlin Heals Holding AG recently raised over CHF7 million (US$7.8 million) in a financing round for C-MIC, a small implantable device it believes can reverse heart failure.

Roche Holding AG revealed plans to launch its sequencing by expansion technology next year, raising the possibility that rival Illumina Inc. could face a real run for its money. Illumina has long dominated the next-generation sequencing and clinical markets and another – potentially superior – high-throughput system on the horizon could put planned purchases on hold.

The longstanding ambition of developing an inhaled gene therapy for cystic fibrosis has taken a step forward, with the start of a phase I/II trial of a product using a novel pseudotyped viral vector that it is hoped will circumvent problems encountered in previous studies with other vectors.

EG 427 SAS has closed a €27 million (US$28.3 million) series B round, which will fund it to completion of the first clinical trial of the lead gene therapy program, opening the way for its herpes simplex viral-vectored products to be developed in a range of chronic neuro-urology disorders.

Boston Scientific Corp. recently received CE mark for its navigation-enabled Farawave Nav ablation catheter and Faraview mapping software to be used with its Farapulse pulsed field ablation (PFA) system. The technologies are expected to improve physicians’ understanding of patients’ atrial fibrillation to enable treatment using the Farapulse PFA system.