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Comment Inducing telomerase activity and cancer risk (Score 1) 1

Telomeres consistent of repetitive subunits of DNA at the ends of chromosomes, where they protect chromosomes from DNA damage. In aged humans, telomere shortening and DNA damage likely have occurred. Reintroducing telomerase activity in these individuals--where telomerase activity is low or absent in adults--may increase the risk of tumorigenesis by maintaining telomeres in cells with significant DNA damage, thereby avoiding DNA damage-induced cell death or senescence.

This may differ from the animal model, where the timeline for DNA damage exposure may be limited due to temporality of the model system studied. Therefore, the reintroduction of telomerase may not unveil additional risk of cancer.

Also, the activity of telomerase is being further investigated, as it has been shown to have other activities--e.g. in transactivation of gene expression--besides lengthening telomeres (Telomerase modulates Wnt signalling by association with target gene chromatin). These effects must be investigated when recapitulating telomerase activity in adults.

Comment Re:Stupid question (Score 3, Informative) 55

Although they offer FTP access to the genomic data--including population, alignment and sequences (traces, calls, etc.)--the NCBI has hosted the files with a README and guide (aspera_transfer_guide.pdf) about Aspera's "fasp technology" that the NCBI claims to incorporate automated checksum verification for both casual downloaders, via a browser plugin, and bulk downloaders, via a cross-platform command-line application. Aspera is new to me; they claim to have some throughput (bandwidth) advantages as well.

Nevertheless, the sequence data files embed MD5 checksums directly, per NCBI documentation, which I would expect bulk downloaders to take advantage of independent of any third-party "technology."

Comment Mutations in BRCA1 are linked to breast cancer (Score 2, Informative) 259

Just to clarify the headline and summary, and as is pointed out in the quote from Dr. Alan Thornhill in the original article:

Mutations in BRCA1 are linked to breast cancer , not just having the BRCA1 gene itself. BRCA1 is a critical tumor suppressor gene that helps maintain genomic integrity. Again, specific mutations in BRCA1 have been linked to breast cancer, not just "carrying the BRCA1 gene". Most of us carry the BRCA1 gene and it is expressed in a wide variety of tissues throughout our bodies. The BBC article uses the language such as "not carrying the BRCA1 gene", this is not entirely appropriate or even the issue at hand. The child will carry the BRCA1 gene, but without the specific mutations linked to breast cancer. (To be even more specific, the child will carry two alleles of the BRCA1 gene, one from each parent, both of which lack the mutations linked to breast cancer.)

Comment not for general endoscopy, but good for screening? (Score 1) 96

As some folks may know who've endured the procedure, endoscopy usually involves a relatively large tube that has more than the two functions of the tethered "pill" listed here. The tethered "pill" can 1) illuminate and 2) visualize, but it does not allow for 3) irrigation, 4) suction or 5) collection of biopsies (more info here). These are critical functions that most larger-bore endoscopes can currently perform without the requirement of adding a second endoscope that can provide these functions.

As a medical student shadowing a gastroenterologist, I know how critical (3)-(5) are in even "normal" endoscopies, let alone those with possible pathology. However, for screening or exploratory endoscopy on low-risk patients, this seems like an excellent tool.

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