The sun's come back in a semi-serious way |
The author, not about to announce a new Apple product |
Scary denizens of the Rose Garden pool |
She's all pom-pomed out ... |
Barrington Court in its fuzzy glory |
"Nothing in Biology (and Social Science) Makes Sense Except in the Light of Evolution"
Isserley in action |
"... But then Follweiler, a retired financial services professional, found she had another tumor in her bowel. Her doctors opened her up, found it was too big to remove and sent her home. “I was basically throwing in the towel,” she said.23andMe use the Illumina chip; my mother's saliva sample should be arriving at its North Carolina offices later this afternoon.
"But one of her physicians sent a tumor sample to Foundation Medicine, a startup backed by Bill Gates and Google Ventures that used Illumina’s sequencers to locate mutations in 236 genes that could help direct drug treatment. As a result of the test she was given Pfizer’s Xalkori, which has made the bowel tumor undetectable and has kept it that way for more than a year. “I feel no different than I felt two and a half years ago,” she says."
Dear Mr SeelHere are some of the highlights from Wikipedia.
Thank you for your letter regarding your family history and suggestion for enhanced screening. I think this probably would be a sensible idea and I am sure the family history would fall within the referral guidelines for the enhanced screening. If you would like to go ahead with this please let me know and I can arrange the referral. The enhanced screening involves an endoscopy which is a fibre-optic camera which can look inside the bowel.
If you would like to discuss this in more detail before me making the referral please arrange to speak to me.
"The pain associated with the procedure is not caused by the insertion of the scope but rather by the inflation of the colon in order to do the inspection. The scope itself is essentially a long, flexible tube about a centimetre in diameter, i.e. as big around as the little finger, which is less than the diameter of an average stool.Something to look forward to before Christmas! Here is what my 23andMe health report has to say about my Colorectal Cancer risk.
"The colon is wrinkled and corrugated, somewhat like an accordion or a clothes-dryer exhaust tube, which gives it the large surface area needed for digestion. In order to inspect this surface thoroughly the physician blows it up like a balloon, using an air compressor, in order to get the creases out. The stomach, intestines and colon have a so-called "second brain" wrapped around them, which autonomously runs the chemical factory of digestion. It uses complex hormone signals and nerve signals to communicate with the brain and the rest of the body. Normally a colon's job is to digest food and regulate the intestinal flora. The harmful bacteria in rancid food, for example, creates gas. The colon has distension sensors that can tell when there is unexpected gas pushing the colon walls out—thus the "second brain" tells the person that he or she is having intestinal difficulties by way of the sensation of nausea. Doctors typically recommend either total anaesthesia or a partial twilight sedative to either preclude or to lessen the patient's awareness of pain or discomfort, or just the unusual sensations of the procedure. Once the colon has been inflated, the doctor inspects it with the scope as it is slowly pulled backwards. If any polyps are found they are then cut out for later biopsy.
"Some doctors prefer to work with totally anesthetized patients inasmuch as the lack of any perceived pain or discomfort allows for a leisurely examination. Twilight sedation is, however, inherently safer than general anesthesia; it also allows the patients to follow simple commands and even to watch the procedure on a closed-circuit monitor. For these reasons it is generally best to request twilight sedation and ask the doctor to take his or her time despite any discomfort which the procedure may entail. Tens of millions of adults annually need to have colonoscopies, and yet many don't because of concerns about the procedure.
"It is worth noting that in many hospitals (for instance St. Mark's Hospital, London, which specialises in intestinal and colorectal medicine) colonoscopies are carried out without any sedation. This allows the patient to shift his or her body position to help the doctor carry out the procedure and significantly reduces recovery time and side-effects. Although there is some discomfort when the colon is distended with air, this is not usually particularly painful and it passes relatively quickly. Patients can then be released from hospital on their own very swiftly without any feelings of nausea."
Nigel SeelAnd here's the caveat.
4.2 out of 100 men of European ethnicity who share Nigel Seel's genotype will develop Colorectal Cancer between the ages of 15 and 79.
Average
5.6 out of 100 men of European ethnicity will develop Colorectal Cancer between the ages of 15 and 79.
The 23andMe Odds Calculator only takes into account effects of markers with known associations that are also on our genotyping chip. Keep in mind that aside from genetics, environment and lifestyle may also contribute to one's risk for Colorectal Cancer.
Ponies at Westhay Moor |
Flies on the face |
The author with birds |
The author's wife with pony |
"A British writer is facing global protests from scientists for suggesting that there are biological differences between races that could explain the success of European nations and make African societies prone to poverty and violence.I reviewed Nicholas Wade's book here.
"Nicholas Wade had expressed the hope that his book, A Troublesome Inheritance, would “draw some of the tension from this fraught subject by showing that the understanding of genetic differences between human groups does not lead to racism”.
"The book, which speculates on whether differences between societies and nations are based on genetic variations, has caused uproar in academia and allegations that its author is doing the very thing he said he was seeking to avoid and encouraging racism.
"In a letter to The New York Times books section, 143 geneticists from universities in Europe and the US protest that his book “juxtaposes an incomplete and inaccurate account of our research on human genetic differences with speculation that recent natural selection has led to worldwide differences in IQ test results, political institutions and economic development.”
"The scientists rejected “Wade’s implication that our findings substantiate his guesswork”, adding that “there is no support from the field of population genetics for Wade’s conjectures.”
"Besides a chapter speculating on an evolutionary basis for “Jewish intelligence” and passages suggesting that genetic traits had led Africans to fail to “develop the ingrained behaviours of trust, non-violence and thrift that a productive economy requires,” Wade examines whether a genetic variation could predispose young African-Americans towards aggressive behaviour.
"He notes that 5 per cent of African-Americans in a study had the mutation as against 0.1 per cent of Caucasians. African-Americans with the genetic variation were “significantly more likely to have been arrested and imprisoned.”
"He says “a large number of genes are evidently involved in controlling aggression” and that even if African-Americans were more likely to possess one particular mutation, Caucasians may carry other mutations."
"A number of commercial firms offer targeted or extensive genotyping to anyone who wants to submit a saliva specimen and pay a fee. Some of the reasons suggested for doing this include identification of ancestral background, relationship certification and most commonly, detection of genetic susceptibilities to disease.In addition, there are many other sources of error in the genetic code which can have profound medical implications - but are not SNPs - such as (from the same report):
"The latter are almost entirely based on GWAS that have associated specific single nucleotide polymorphisms (SNP) with an increased (or decreased) likelihood of developing a particular common disease. In almost all such GWAS-based analyses, the association with disease is highly statistically significant but of remarkably little predictive value. In other words, the relative risks of developing a disease based on having one of these markers is typically in the range of 1.1–1.4.
"Moreover, virtually no research has been done to examine the clinical utility of being identified as having one of these risk markers. For example, is someone with the 9p21-linked SNP that has no known biologic function but is associated with a slightly greater risk of developing an atherosclerosis-related condition more likely to alter their lifestyle, change their diet, or stop smoking? "
"Translocation results from an exchange of parts of two chromosomes.So most health reports tell you that you have some SNPs which increase, or decrease your susceptibility to this or that condition, but in the current state of the research it's not known how many other SNPs or distinct genetic modifications could also affect the likelihood of acquiring it. Early days indeed!
"Deletion is loss of chromosomal material.
"Duplication is the presence of two or more copies of the same region of a given chromosome. The redundancy may occur in the same chromosome or in a nonhomologous chromosome. In the latter case, a translocation will also have occurred."
"... given sufficient phenotype|genotype data, genomic prediction of traits such as cognitive ability will be possible. If, for example, 0.6 or 0.7 of total population variance is captured by the predictor, the accuracy will be roughly plus or minus half a standard deviation (e.g., a few cm of height, or 8 IQ points). The required sample size to extract a model of this accuracy is probably on the order of a million individuals. As genotyping costs continue to decline, it seems likely that we will reach this threshold within five years for easily acquired phenotypes like height (self-reported height is reasonably accurate), and perhaps within the next decade for more difficult phenotypes such as cognitive ability. At the time of this writing SNP genotyping costs are below $50 USD per individual, meaning that a single super-wealthy benefactor could independently fund a crash program for less than $100 million.
"Once predictive models are available, they can be used in reproductive applications, ranging from embryo selection (choosing which IVF zygote to implant) to active genetic editing (e.g., using powerful new CRISPR techniques). In the former case, parents choosing between 10 or so zygotes could improve their expected phenotype value by a population standard deviation. For typical parents, choosing the best out of 10 might mean the difference between a child who struggles in school, versus one who is able to complete a good college degree. Zygote genotyping from single cell extraction is already technically well developed, so the last remaining capability required for embryo selection is complex phenotype prediction. The cost of these procedures would be less than tuition at many private kindergartens, and of course the consequences will extend over a lifetime and beyond.
"The corresponding ethical issues are complex and deserve serious attention in what may be a relatively short interval before these capabilities become a reality. Each society will decide for itself where to draw the line on human genetic engineering, but we can expect a diversity of perspectives. Almost certainly, some countries will allow genetic engineering, thereby opening the door for global elites who can afford to travel for access to reproductive technology. As with most technologies, the rich and powerful will be the first beneficiaries. Eventually, though, I believe many countries will not only legalize human genetic engineering, but even make it a (voluntary) part of their national healthcare systems. The alternative would be inequality of a kind never before experienced in human history."
"Reason is, and ought only to be the slave of the passions, and can never pretend to any other office than to serve and obey them."Razib Khan writes:
David Hume, "Treatise on Human Nature", T 2.3.3 p. 415, 1739.
"In other news, my post on the Islamic State has been widely distributed, including being referenced in Ross Douthat’s column. I would have chosen a better title if I had known how it would blow up, but who knows such things. Most of the reaction has been positive, but a few have come up with this sort of feedback:Putting Empiricism to one side, let's agree that Hume is absolutely right in the quote at the start of this post. People in the grip of emotion (often abhorrence or disgust, but it can go the other way) all too frequently apply their rationality in the service of justifying their feelings. So what is Razib Khan actually asking for? That the emotional drive we should engage when thinking about something analytically is that of enquiry, the urge to find out. Only there will truth lie (and apologies for the superficial gloss on Epoché).
"The ease with which the author rationalizes ISIS' genocidal ways has left me pretty much speechless!"
The post was long, so this individual may not have read it in full. Or, they may have some issues with reading comprehension, I’m not the clearest writer sometimes (though often it is by design because sometimes I don’t want to be explicit about secondary or sideline issues). But it’s not an uncommon response over the years when I talk about controversial or difficult things. There are several definitions of rationalize, but the key is that often I write in a somewhat bloodless and detached manner about topics which people are emotional about. The problem here is with people who are emotional and allow their emotions to cloud all ability to reason. To understand something you need to engage in Epoche, detach yourself from your conventional perspective and attempt to fly over the landscape. Those who lack emotional self control can’t comprehend that sort of self control in others, and so impute emotional motives. This is unfortunate, since it helps turn everything into screaming match. On the other hand, I do agree with David Hume that reason serves emotions. But that service of reason is rendered null if the two aspects are muddled."
A gene - showing coding nucleotides and SNPs |
# This data file generated by 23andMe at: Tue Apr 23 09:13:29 2013So now we come to Promethease. This is a self-service program which links your raw data to the current scientific literature. For $5 you get a report which tells you what is known about the unique set of SNPs which define you (at least as far as 23andMe presently go - some way short of a full genome analysis which is still too expensive).
#
# Below is a text version of your data. Fields are TAB-separated
# Each line corresponds to a single SNP. For each SNP, we provide its identifier
# (an rsid or an internal id), its location on the reference human genome, and the
# genotype call oriented with respect to the plus strand on the human reference sequence.
# We are using reference human assembly build 37 (also known as Annotation Release 104).
# Note that it is possible that data downloaded at different times may be different due to ongoing
# improvements in our ability to call genotypes. More information about these changes can be found at:
# https://www.23andme.com/you/download/revisions/
#
# More information on reference human assembly build 37 (aka Annotation Release 104):
# http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?taxid=9606
#
# rsid chromosome position genotype
rs4477212 1 82154 AA
rs3094315 1 752566 AA
rs3131972 1 752721 GG
rs12124819 1 776546 AA
rs11240777 1 798959 GG
rs6681049 1 800007 CC
rs4970383 1 838555 AC
rs4475691 1 846808 CT
rs7537756 1 854250 AG
rs13302982 1 861808 GG
rs1110052 1 873558 GT
rs2272756 1 882033 AG
"a quantum vacuum plasma thruster-powered spacecraft weighing 90 tonnes would be able to reach Proxima Centauri in ~29.9 years at 4 newtons per kilowatt."I'd definitely buy one of those!
Yep, it's been there .. |
My sister commented that Clare looked 'cheesed off' .. |
"A religion is sometimes a source of happiness and I would not deprive anyone of happiness.But it is a comfort appropriate for the weak - and you are strong. The great trouble with religion - any religion - is that a religionist, having accepted certain propositions by faith, cannot thereafter judge those propositions by evidence. One may bask at the warm fire of faith or choose to live in the bleak uncertainty of reason - but one cannot have both."Robert A. Heinlein wrote these words in "Friday" (p. 306) published in 1982 - thirty two years ago. Last time I noticed, religion was still doing its magic.
"It seems to me that the world should try to preserve the precious resource of Ashkenazi brains. I don’t follow the politics of the region all that closely but Arabs, Palestinians and the like are plentiful and not very talented. Jews however are rare and valuable. These basic facts to me argue for siding with Israel."This is a scaringly controversial sentiment to express. It violates all our empathic instincts .. and the poster was immediately rebuked for 'autism'. We can all think of scenarios where for the good of some section of humanity, other sections have to justifiably die. It's called backing one side in a war and we're all expected to do it under some circumstances - so perhaps it's disingenuous to beat up Mr Boyle for his unbearable frankness. Had he spoken instead of Israel being a first-world democracy in a third world region and thereby worth preserving as a beacon then I guess his remarks would have come across as more mainstream, at least in America.