Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Better Late Than Never: Celera Allows UCSF to Develop KIF6 Assay
Better late than never. UCSF's Alan Wu can rest easy now that Celera has allowed the school to develop a molecular diagnostic for cardiovascular risk based on its KIF6 gene IP.
Last July Wu, chief of San Francisco General Hospital’s Clinical Chemistry Laboratory, told me the school is in the process of “getting a license” to the assay from Celera with the hope of offering a homebrew version of the assay in the fall.
Today, Celera said it has added UCSF, which will be allowed to develop and perform the test for three years in the state. The assay is meant to identify patients at increased risk for congestive heart failure.
The deal makes UCSF the first non-Celera lab in the US to be granted a license to develop and perform a KIF6 LDT.
It also makes UCSF the fifth facility in the US to offer the test. The four others are Berkeley HeartLab, which is a unit of Celera; Aurora Health Care in Milwaukee, Wis.; and Geisinger Medical Center and Proven Diagnostics of Danville and Bethlehem, respectively, in Pennsylvania.
In July, Wu, who is also a professor of Laboratory Medicine at UCSF, told me the school is "trying to convince [Celera] that this test needs to be marketed, that it needs to be exposed because I think there’s going to be a lot of demand” for it.
Today, Celera CEO Kathy Ordonez said the UCSF deal is “consistent with Celera’s strategy to make KIF6 testing broadly available and our efforts to drive our new genetic discoveries into routine personalized care for patients with risk for cardiovascular disease."
Widely cited studies have shown that carriers of the wild-type KIF6 allele could be at a 55-percent increased risk for developing “coronary events.” As a result, physicians can use a KIF6 test to identify such patients and begin treating them with statins.
Celera began offering the assay in March 2008 to a limited group of physicians and patients after BHL finished validating it. Three months later the San Francisco Business Journal reported that the company had planned to “roll out [the assay] nationally” in July of that year.