A Medical Device Daily

Researchers at deCODE genetics (Reykjavik, Iceland) say they have discovered two common, single-letter variants in the sequence of the human genome (single-nucleotide polymorphisms, or SNPs) that the company said regulate one of the principal motors of evolution.

Their paper, titled “Sequence Variants in the RNF212 Gene Associate with Genomewide Recombination Rate,” was published in the online edition of Science.

According to deCODE, versions of the two SNPs, located on chromosome 4p16, have a genome-wide impact on the rate of recombination — the reshuffling of the genome that occurs in the formation of eggs and sperm.

“Recombination is largely responsible for generating human diversity, the novel configurations of the genome that enable the species to adapt and evolve in an ever-changing environment,” the company said in a news release.

“Remarkably, the versions of the SNPs that increase recombination in men decrease it in women, and vice versa,” deCODE said. “This highly unusual characteristic may enable the variants to help to maintain a fundamental tension crucial for evolutionary success: promoting the generation of significant diversity within a portion of the population but keeping the pace of this change within certain bounds, maintaining it relatively constant overall and so supporting the stability of the genome and the cohesiveness of the species.”

Kari Stefansson, CEO of deCODE, said, “This is the latest in a series of landmark papers ... in which we have utilized our unique capabilities in human genetics to elucidate some of the key mechanisms driving human evolution. We are also excited that we can now immediately enable individuals to see if they carry such variants, by folding the findings announced today — and others we expect to publish in the near future — into our deCODEme personal genome analysis service.”

The deCODE team say that they identified the SNPs through a genome-wide analysis of more than 300,000 SNPs in about 20,000 participants in the company’s gene discovery programs. The SNPs, referred to as rs3796619 and rs1670533, are within the RNF212 gene, and are estimated to account for roughly 22% of paternal variability in recombination and 6.5% of maternal variability. Little is known about RNF212, though it is a mammalian homolog of a gene called ZHP-3 known to be crucial for the success of recombination in other organisms.

deCODE is applying its discoveries in genetics to the development of drugs and diagnostics for common diseases. It said its population approach and resources “have enabled us to isolate key genes contributing to major public health challenges from cardiovascular disease to cancer, genes that are providing us with drug targets rooted in the basic biology of disease.”

China approves Embospheres for sale

BioSphere Medical (Rockland, Massachusetts) said the Medical Device Department of the State Food and Drug Administration in China has approved the company’s Embosphere Microspheres for clinical use for vascular embolizations, arteriovenous malformations, hypervascularized tumors and symptomatic uterine fibroids.

A pioneer in the use of bioengineered microspheres to treat uterine fibroids, hypervascularized tumors and vascular malformations by a minimally invasive, image-guided medical procedure called embolotherapy, BioSphere said it expects to begin shipments of Embosphere Microspheres to China in 1Q08.

President/CEO Richard Faleschini said, “Our in-country partners estimate that currently approximately 200 million Chinese have health coverage. We believe that among these covered lives are a large number of patients who have and are being treated for benign and malignant hypervascularized tumors, such as uterine fibroids and hepatocellular carcinoma. Therefore, we believe that China has the potential to be an attractive market for us, and a catalyst for potential future revenue growth.”

In China, the annual incidence of hepatocellular carcinoma (HCC, or primary liver cancer) is about 350,000, roughly half of the total worldwide incidence. The high occurrence of HCC in Asia in general and China in particular is attributed to a high historical prevalence of the hepatitis B and C viruses.

Broader global distribution for Starion

Starion Instruments (Sunnyvale, California) said it has extended the worldwide distribution of its tissue-welding technology to include North America, Europe, the Middle East, Africa and Asia.

“Sealing and dividing soft tissue is an essential part of surgery,” the company said. “Unlike conventional products which use indirect forms of energy, Starion instruments perform sealing and dividing with direct heat and pressure. Studies have shown that this method minimizes thermal spread, reduces the risk of collateral damage and decreases patient recovery time.”

Kirt Kirtland, president and chief executive officer of Starion Instruments, said, “Surgeons worldwide are demanding technologies that enhance performance, minimize risk and improve patient outcomes.”

In South Africa, for example, surgeons are using the company’s products in a wide variety of cardiology, general surgery, gynecology and otolaryngology procedures. Lance Maron, of Netcare Parklane Hospital (Johannesburg), presented findings at the recent 43rd South African National ENT & SAHNOS Congress indicating that Starion’s forceps are easy to use, cause minimal intra-operative blood loss, facilitate complete removal of tonsils, resulting in rapid healing and recovery with less post-operative pain and a fast return to normal diet and school/work.

MRSA test approved in Canada

Cepheid (Sunnyvale, California) said Health Canada has issued a medical device license for the Xpert MRSA test for the rapid detection of methicillin-resistant Staphylococcus aureus (MRSA) on nasal swabs and the GeneXpert System.

The company said Xpert MRSA test results are available in about 70 minutes, enabling rapid identification of carriers of the potential pathogen in less than two hours, from the acquisition of the patient sample to returning the result to the floor.

The company said the availability of the Xpert MRSA test and the GeneXpert System is expected to help enable Canadian healthcare organizations implement “more efficient infection control measures,” leading to lower hospital acquired infection rates and improved patient care.

“There is evidence of growing worldwide concern over increasing MRSA infection rates and other healthcare-acquired infections such as Clostridium difficile,” said John Bishop, CEO of Cepheid.