Hi there, welcome to module four.
So, in this week, we're going to take more
of a clinical look at what happens
when things don't go according to the normal processes,
in particular in myosis.
So, what can be the result of not properly segregating
the chromosomes as you learned about in the previous module?
What could happen there?
As well as what can happen when there are large scale issues
with the chromosome structures themselves.
So, we're not just talking about a single small mutation
or base change in a particular gene,
but instead take looking at a whole chromosome
that's learned about in these previous modules.
And let's say that a piece of it breaks off,
or a piece of it gets duplicated or gets flipped around.
Even something like that can certainly have
a pretty significant impact on the individual
or the viability of an embryo that might form
from a cell that would have those types
of chromosomal abnormalities.
You're gonna learn a little bit more
about some of the standard nomenclature
around chromosome location, which is,
I think will be really helpful to you if you,
for example, have a patient who has
a diagnosed chromosomal abnormality,
or you order a test for any kind of chromosomal abnormality
and the results come back,
it can look like alphabet soup almost sometimes,
but we're gonna break that down and show you what the,
what those common designations actually mean and what,
you know, what you're looking at
and be able to map it back
to a place on a particular chromosome.
So, that's what's on tap for this week.
We have three lectures, one on aneuploidy,
which is the inappropriate number of chromosomes,
one on chromosomal abnormalities, and then one on mosaicism,
which is an interesting concept of basically
what if this either
an event that leads to aneuploidy from mitosis
or a chromosomal abnormality
that might happen early in development.
So, that would mean that not all the cells
in a person's body actually have the abnormality.
What does that mean for the individual?
And how does that actually come to be?
So, you're gonna learn a little bit about that.
It's actually fairly common that you'll see mosaicism
in some individuals.
So, I think it's really important concept to understand,
so that's in there.
You have some required reading from your textbook,
and if you don't have the textbook at this point,
please email me and let me know.
And, you know, we can try to figure something out.
I don't have the pages scanned in this week
because I figure by now, I think everybody probably has it.
If you don't, though, again, let me know.
There's another little blurb from another section
from the textbook chapter that I wrote.
And then, I have provided you
with another folder in the required reading folder
that contains links to different websites that have,
I think can be really helpful animations
of some of the different concepts
that you're going to learn about in module four.
And that actually also overlaps nicely with module three.
So, if you're still not quite a hundred percent there
with mitosis and myosis, don't worry,
we're gonna go through that a lot this week,
you know, in more detail.
And so, and specifically where issues can come up
and things can go wrong.
So, I would encourage you to if,
even if you don't think you're having a lot of trouble
with some of these concepts,
it could just be nice to reinforce
and to learn something in a different way
by visualizing it a bit differently.
So, I have some links to some websites
that have either videos or animations
that might be useful to you.
If you really think you have this down pat,
you don't have to worry about going to them.
And let's see, oh, there's another folder
in your required readings that contains three PDFs.
And each one is actually a story
as told from a patient with an aneuploidy
or chromosomal abnormality.
And this was from a project based in the UK
called Telling Stories, which is from nurses
who work in genetics
in the UK and they have put together
and captured and just really did a beautiful job
of hearing the patient's stories
and their perspectives on genetic diseases and disorders.
And so, I pulled some of those,
three of those for you for this week to read.
And then, that's actually your assignment's going to be,
answering some prompts, some questions that I put together
for each of those stories just to get you to think about it.
And we're gonna, you know, making this transition
from the pure science side of it, which we started,
we've started with here in building a foundation with
in the first couple of weeks to now thinking about it more
from the patient's perspective,
and then leading that to how it might apply
to your clinical practice as well.
I never want to lose,
lose track of the real meaning
of what it is we're learning here,
which certainly I'm sure to you and to myself as well,
is the impact that it can have
on your patients and their families.
So, we're bringing that back in
for the assignment this week.
You also have a quiz, and again, take it up to three times,
but hopefully you have a lovely weekend.
Are able to finish up your module three material
and can get a jumpstart on this next week.
Again, if you have any questions or concerns along the way,
please, please don't hesitate to email or call me,
or stop by if you're in the neighborhood.
Love to see any of you.
So, yeah, with that, I will close out
and I look forward to hearing from you
on the discussion board
and jumping into this modules material, take care.