• rENNISance woman by Cath Ennis

    Matt Brown said: "You can blog about whatever you wish, as long as it is related to science and research". His wish is my command! Here are some snippets from my life as a cancer research grant wrangler in Vancouver. Mostly the silly bits.

    • A genetic legacy rears its ugly head in a new generation

      Thursday, 20 Aug 2009 - 18:46 UTC

      My family is plagued by a most unfortunate genetic affliction.

      Both of my maternal grandparents had it, as do my mother and one of her sisters.

      My mum and auntie exacerbated the situation by marrying men with the same disorder. They couldn’t really help it; people with this problem are forced by a cruel society to spend most of their time with their fellow sufferers, leaving few other options for finding a mate.

      However, my family rejoiced as all members of my generation reached maturity with no signs of the affliction. We were worried about one cousin for a while, but she pulled through and is now a normal, happy, and well adjusted member of society.

      But.

      The affliction has reappeared in a new generation. Another cousin’s oldest daughter1 had been showing symptoms for a while, and the affliction has now progressed to such a degree that she can officially be considered a new proband affected relative.

      pedigree

      My unfortunate genetic pedigree

      Oh, Dani Dani Dani.

      Many congratulations on your A Level results, and your acceptance into your first choice degree course.

      But really.

      Just when we think we’ve managed to eliminate the teaching gene from the family, you choose teacher training??!!

      Sigh.

      1 I never know if this makes her my second cousin, or cousin once removed, or some other permutation. Luckily, all members of the cousin genus are referred to as cushions in my family, which makes things easier for us (not usually for outsiders though).

      Last updated: Thursday, 20 Aug 2009 - 18:46 UTC

      • Comments

        • Date:
          Thursday, 20 Aug 2009 - 20:57 UTC
          Richard Wintle said:

          Pedantry:

          Proband – the first one ascertained. You can’t have a “new” proband in an existing pedigree.

          Your cousin’s daughter is your first cousin, once removed. She would be your child’s second cousin.

          /pedant

          That’s a lovely pedigree – looks like a classic example of a dominant condition with reduced penetrance in the third generation, and some examples (as you note) of assortative mating. Fabulous.

          And… I’ve mentioned this a few times in other places, but some years ago the American Journal of Human Genetics ran a nice article on apparent genetic tendency to attend medical school (as an illustration of how things can appear genetic, when really they’re just clustering in a pedigree).

          Aha! Here it is. P McGuffin and P Huckle. Simulation of Mendelism revisited: the recessive gene for attending medical school.
          Am J Hum Genet. 1990 May; 46(5): 994–999. PMCID: PMC1683595

        • Date:
          Thursday, 20 Aug 2009 - 21:03 UTC
          Cath Ennis said:

          D’oh! I knew that (or at least I used to). So what word should I use instead of proband? I’ll keep the arrow though, I can’t be bothered to go back into PowerPoint (to ungroup, delete, regroup, save as picture), and then Flickr.

          Thanks for the cousin info and the link. I swear I hadn’t heard of that paper before! Great minds think alike ;) (although it was my mum who came up with the teaching gene hypothesis).

        • Date:
          Saturday, 22 Aug 2009 - 04:38 UTC
          Sabbi Lall said:

          But teaching’s fantastic! Do many of these teachers teach science or is there a spread of subjects (phys ed?)?

        • Date:
          Saturday, 22 Aug 2009 - 12:14 UTC
          Linda Lin said:

          ooooh, a pedigree!

          yup, definitely not X-linked, considering it’s a somewhat 50/50 split between M’s and F’s that express the gene. Agree with Richard, autosomal dominant with loss of penetrance.

          haha…recessive gene for medical school, wonder how many parents wish that were true.

          now i recall how i remember pedigrees, from a genetics course at ubc where the prof thought it would be memorable to introduce an example question that involved incest and melodrama…. ><;; I remember thinking there must be a better a way of teaching it. and think ur hypothetical pedigree would make for a much better example for a class.

        • Date:
          Saturday, 22 Aug 2009 - 15:59 UTC
          Cath Ennis said:

          Sabbi, but the work load’s a killer.

          No science teachers in my family – my grandparents and cousin-once-removed taught/will teach primary school, and my parents and auntie and uncle between them taught French, German, Spanish, and English, in various combinations.

          Linda, there is definitely some kind of variable penetrance in operation!

          Incest and melodrama, LOL… we’ve had some of the latter in my family, but none of the former! I checked my pedigree about eight times to make sure I hadn’t accidentally put any embarrassing mistakes in there that might make you think otherwise…

        • Date:
          Sunday, 23 Aug 2009 - 13:37 UTC
          Åsa Karlström said:

          Cath> that is lovely. I think the interesting part would be to know if there will be anyone else in the same order as the newly discovered teacher, sisters or real cousins, to show up as a techer. To make it more obvious I mean ;)

          The medical school issue was raised in my [genetic] class as “is this a form of nuture or nature” when we started a survey about choice of education compared to family backgrounds. And then after that had a lecture about “false linkage without outside evidence” or what ever it was really called…. :)

        • Date:
          Monday, 24 Aug 2009 - 21:31 UTC
          Cath Ennis said:

          Åsa, there are a couple of younger cousin-oids in that generation (and one more on the way, now I think of it), so it will be interesting to see what careers they choose! It’s important to note though that a knowledge of your genetic history can really help you to avoid lifestyle choices that might trigger the onset of a variable penetrance allele. I may need to offer said cousinoids some genetic counselling.

        • Date:
          Tuesday, 25 Aug 2009 - 17:49 UTC
          Richard Wintle said:

          @Cath – the new person would be a new “affected relative”, or just “affected”.

          On a peripherally related note, I am married to a newly-minted, and currently unemployed, science teacher. Her father was a college teacher, my father was a university professor (both now retired), and my dad’s parents were both school teachers. Quite what this means I don’t know, although I suspect some kind of pleiotropic syndrome. With reduced penetrance. And assortative mating. And all that good stuff.

        • Date:
          Tuesday, 25 Aug 2009 - 18:57 UTC
          Åsa Karlström said:

          Richard> I think it means you escaped very narrowly ;) Any cousins/siblings with teaching jobs?

          Cath> ahh… the study will continue with more data collection. I think you are absolutely correct about the “extra” knowledge to avoid lifestyle choices ;) I liked that a lot! [from the one with a mother who was a science teacher]

        • Date:
          Tuesday, 25 Aug 2009 - 19:04 UTC
          Cath Ennis said:

          Thanks Richard, it’s fixed now.

          I’ve heard that, in the UK at least, the children of teachers often went on to become teachers themselves. However, my generation did not follow this trend. I wonder how many people’s parents actively dissuaded their kids from following in their footsteps? Both my parents, but especially my Dad, kept telling my sister and me not to become teachers! Mind you, I’d already made my own mind up, based on how much they worked on evenings and weekends. I don’t think my Dad ever finished before 10 pm.

        • Date:
          Wednesday, 26 Aug 2009 - 00:26 UTC
          Åsa Karlström said:

          CAth: I think the long summer vacations (10 weeks or so) that teachers have in Sweden anyway would make for some good things even if it is lots of work on weekday evenings…. Not to mention Christmas break, “sports break”, Easter break and other things they have…

        • Date:
          Wednesday, 26 Aug 2009 - 00:34 UTC
          Cath Ennis said:

          Yes, well, that’s the one advantage! (And not one that most teachers of my acquaintance seem to appreciate properly, since they’ve always had long vacations in school, university, and at work). It’s only 5 weeks in England though.

        • Date:
          Wednesday, 26 Aug 2009 - 14:15 UTC
          Richard Wintle said:

          Any cousins/siblings with teaching jobs?

          Not that I’m aware of. Well, siblings, definitely no. Both my parents were only children so I’m rather lacking in cousins. On my wife’s side… hm, don’t think so, although there are enough of them that statistically, we might expect one or two. ;)


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