Tuesday, 18 February 2020

Does he take sugar?

Sing!: Yer toe-bone's connected to yer foot-bone; yer foot bone's connected to yer ankle bone . . . dem bones dem bones gonna walk around,. The deeper I get into genetics, development and human physiology the more peculiar the connexions become. Take vasopressin: a hormone distributed from the posterior pituitary which, as it says on the tin, compresses blood vessels to keep up blood pressure. The same hormone has an alias - anti-diuretic hormone - which promotes water retention in the kidney . . . which keeps up blood pressure. I'm covering this next week in Hum Phys as a classic case of homeostasis (and redundancy). Lecturing to pharmacy technicians on Hum Phys mentions a lot of drugs; most of which have a quite extraordinary range of side-effects. Take infliximab for example; or rather don't! unless you're real sick. What that tells us is that the normal function of the drug-target is remarkably varied and wide-spread.

What about TAR syndrome? That's Thrombocytopaenia with Absent Radius. It's a genetic disease caused by mutations in a gene RBM8A or deletion of the portion of chromosome 1 which houses that gene. Thrombocytopaenia is the absence of platelets, which brings its own clatter of problems, but it seems absurdly specific that the same lesion should absent the radius but not the ulna; the other bone in the fore-arm. Because the radius, which could be considered the foundation of the thumb, is absent the thumb is opposable but often smaller than optimal function requires. And the hand, lacking half of its supports is canted at right-angles to normal. Your thumbs are one of your most under-appreciated assets: try opening a jam-jar, writing a thank-you letter or whacking a home-run into the crowd without 'em!

Why do I know so much about this rare [1:200,000 live births] disease? Because yesterday I met one of the bus-load of Irish people with the condition. Nice young chap, doing his Leaving Certificate next year and wanting to be a forensic scientist: must have been binge-watching CSI on the telly, like far too many youngsters. His parents asked if they could bring him round to The Institute to test the waters and see just how hard, or easy, studenting in science might be for a young chap with plenty of determination and ambition but a bit short in the arms. Is that an unsurmountable deficit? I would have preferred, if having brought him from home, the parents had buggered off for a coffee rather than hanging around being useful.

In first year science, students typically will take physics, chemistry and biology. I did 50 years ago and we're still in those parallel-and-never-meet ruts in the 21stC. That because we bin science in that way and have done for about 200 years. "Keats and Shelley were the last two poets who were at all up to date with the chemical knowledge." Because in their day, a chap could be expected to know all the science that anyone knew. Since then, the amount we know collectively has ballooned into a monster that not even Wikipedia can fully cover; hence the specialisation.

As we're starting first year microbiology next week, we have a bunch of already poured Petri dishes and some stock strains of bacteria to play with - E.coli, Pseudomonas, the usual suspects. I suggested that I could get the chap to streak some plates and see how they grow. It's no more difficult than writing your name: the other hand its important for holding the Petri dish or paper steady while the dominant hand scribbles. Well he made a total hames of it the first time, but that's okay. He tried a tuthree more times and seemed to be making different mistakes each time, but that's okay too. If his life depended on it, I'm pretty sure he could learn to streak plates efficiently and reliably. But I don't think we'll have, or make available, the extra resources of time and consumables to get him where he needs to be. That's not discriminatory because we don't give any of our students time and consumables and practice to get to do anything really well - because we are obsessed with content and getting through a demanding syllabus of repeating dead white men's experiments.

But ya know what was the most depressing aspect of the morning? Everyone talked for him (parents) or over his head at the parents (us) or at him but nobody found time to listen to him. But at least I had one positive idea to share. There is more to forensics than swatting flies off body parts found in a bin-bag in a shallow grave. It is routine now to get DNA sequenced: to identify the sex, race and relations of that bin-bag-body; to identify the bacteria in a sputum sample; to check for HIV status. Someone has to be the whizz who knows what to do with DNA data. But DNA data is just data. You don't need to know how to streak a Petri dish; or dissect a dogfish; or operate a microscope - data is data and on a computer science degree you're good to go so long as you can hunt-and-peck across a keyboard - one finger ,or a toe, or a pencil in your mouth will do good enough. I spent 20 of the last 30 years doing little more than writing code to analyse genomes; it was good fun and they paid me to do this - what's not to like about that for a career?

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