Importance of Natural Resources

What shapes our health? #1 Nature


I think genes get a bad press I think often when we think about
genetics and the nature bit we think about families, determinism,
inescapable effects, major problems congenital changes, things like that
not necessarily the case this is a landscape of genetic effects
and the reason I’m so excited about it
is this represents the culmination of genetics research over literally decades we can now tell the story of this landscape in full because the studies, the human studies
that are interested in genetics at a population level have come on so far and are now so big
so let’s walk through this landscape together we’ll start in the top left-hand corner
with these things and I want to give you the full context
of the graphs, so I will explain the lines first on the bottom here, you have a line that goes from low to high, in terms of the frequency of the change how often this thing is observed in the population,
I’m talking about mutations in the population changes in the code, that you may carry
and you may not how often do those events occur, a bit like saying how many smokers are there roughly we now know roughly sixteen or fifteen per cent of people are smoking, the rest aren’t that’s the frequency of that event I’m just communicating that in terms of the nature component, the genetics up on this part of the graph is the gravity of their effect whether they don’t really do anything to your manifest self or whether they change you completely Into that landscape, we’re going to work through and look at different types of genetic effect so I said we’d start with these ones up here
I’ve put a family tree up there now we can measure very rare changes,
the sort of thing a physician or clinician might see in a family occurring
because it’s a big change it occurs very rarely, it essentially escapes natural selection because it’s brand new it has not been selected against, it has not been removed from the general population yet, and it appears to track in families Granny had it, and it goes down to cousin,
and cousin had it, and so on those patterns of heritability are well charted and they happen for de novo (brand new) mutations they can be very strong effects because they slip underneath the radar of selection they’ve not existed for a long time I should say that those are quite easy to see you see them tracking in families and they do really radical things to people if you were trying to find the same sort of frequency of event but it did nothing at all well, it’s very hard to find, no doctor ever sees them, we can’t ever measure them, you just don’t get them in research counter those types of effect which have large impact on health with things at the other end they’re high in frequency, they’re old they’ve been knocking around in the population for a long time but selection has been weeding out the ones that really change our health because it would be impossible to have a lineage of people that carried a radical health effect through millennia in lots and lots of familial generations so they’re up here in terms of frequency,
but right down the bottom in terms of effect which is where we’ve been doing lots of work trying to get big population studies to mine those types of effects they have a natural antithesis as well of course which would be high frequency, high effect well those guys are gone as nice as it would be to maintain them, and maybe there are a few knocking around for positive things how fast you can run maybe, or something like that but they’re certainly not there for detrimental things now that landscape, rare to frequent, low to big effects we can now see in our data,
we see the rare familial effects we see the less frequent population-based effects why is that important? It’s important because the complexity of the health measure
that we’re interested in has an effect on, or is at least is related to the type of genetic effects that we see now there are rare, inescapable, deterministic effects which families are blighted with and are awful, and things like 100,000 Genomes UK a big government initiative to do genetics is trying to help but that does not preclude the existence of small, frequent changes that happen in us all genetics is not a scary thing it is absolutely the prerequisite to your physical being alongside the environment If somebody measures your blood pressure, they’re not just doing an environmental measure they are literally taking the temperature
of the genetics and the environment working together now that type of complex measurement
which involves the pump, the liquid, the veins, everything we’re measuring by one number, by sticking a pump on your arm means that actually it’s a composite of lots and lots and lots of little things and, by and large, resides down here it is still heritable, it is still genetic, but
just not the same flavour as those rare, really poky, nasty events that we see very infrequently in families so it’s not that genetics is one thing or another it’s pervasive, it sits right across the patch,
but it is in different flavours that’s really really important understanding it helps us understand biology it does not mean that it’s super scary and is deterministically going to kill us all that’s an important distinction, a sort of enlightening feeling about genetics which is very important


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