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Hi there, welcome to module four.

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So, in this week, we're going to take more

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of a clinical look at what happens

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when things don't go according
to the normal processes,

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in particular in myosis.

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So, what can be the result
of not properly segregating

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the chromosomes as you learned
about in the previous module?

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What could happen there?

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As well as what can happen when
there are large scale issues

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with the chromosome structures themselves.

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So, we're not just talking
about a single small mutation

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or base change in a particular gene,

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but instead take looking
at a whole chromosome

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that's learned about in
these previous modules.

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And let's say that a
piece of it breaks off,

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or a piece of it gets duplicated
or gets flipped around.

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Even something like
that can certainly have

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a pretty significant
impact on the individual

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or the viability of an
embryo that might form

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from a cell that would have those types

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of chromosomal abnormalities.

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You're gonna learn a little bit more

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about some of the standard nomenclature

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around chromosome location, which is,

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I think will be really
helpful to you if you,

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for example, have a patient who has

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a diagnosed chromosomal abnormality,

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or you order a test for any
kind of chromosomal abnormality

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and the results come back,

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it can look like alphabet
soup almost sometimes,

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but we're gonna break that
down and show you what the,

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what those common designations
actually mean and what,

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you know, what you're looking at

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and be able to map it back

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to a place on a particular chromosome.

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So, that's what's on tap for this week.

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We have three lectures, one on aneuploidy,

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which is the inappropriate
number of chromosomes,

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one on chromosomal abnormalities,
and then one on mosaicism,

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which is an interesting
concept of basically

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what if this either

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an event that leads to
aneuploidy from mitosis

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or a chromosomal abnormality

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that might happen early in development.

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So, that would mean that not all the cells

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in a person's body actually
have the abnormality.

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What does that mean for the individual?

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And how does that actually come to be?

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So, you're gonna learn
a little bit about that.

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It's actually fairly common
that you'll see mosaicism

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in some individuals.

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So, I think it's really
important concept to understand,

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so that's in there.

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You have some required
reading from your textbook,

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and if you don't have the
textbook at this point,

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please email me and let me know.

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And, you know, we can try
to figure something out.

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I don't have the pages
scanned in this week

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because I figure by now, I
think everybody probably has it.

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If you don't, though, again, let me know.

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There's another little
blurb from another section

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from the textbook chapter that I wrote.

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And then, I have provided you

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with another folder in the
required reading folder

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that contains links to
different websites that have,

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I think can be really helpful animations

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of some of the different concepts

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that you're going to learn
about in module four.

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And that actually also overlaps
nicely with module three.

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So, if you're still not
quite a hundred percent there

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with mitosis and myosis, don't worry,

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we're gonna go through
that a lot this week,

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you know, in more detail.

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And so, and specifically
where issues can come up

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and things can go wrong.

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So, I would encourage you to if,

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even if you don't think
you're having a lot of trouble

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with some of these concepts,

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it could just be nice to reinforce

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and to learn something in a different way

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by visualizing it a bit differently.

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So, I have some links to some websites

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that have either videos or animations

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that might be useful to you.

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If you really think
you have this down pat,

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you don't have to worry
about going to them.

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And let's see, oh, there's another folder

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in your required readings
that contains three PDFs.

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And each one is actually a story

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as told from a patient with an aneuploidy

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or chromosomal abnormality.

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And this was from a
project based in the UK

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called Telling Stories,
which is from nurses

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who work in genetics

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in the UK and they have put together

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and captured and just
really did a beautiful job

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of hearing the patient's stories

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and their perspectives on
genetic diseases and disorders.

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And so, I pulled some of those,

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three of those for you
for this week to read.

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And then, that's actually
your assignment's going to be,

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answering some prompts, some
questions that I put together

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for each of those stories just
to get you to think about it.

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And we're gonna, you know,
making this transition

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from the pure science side
of it, which we started,

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we've started with here in
building a foundation with

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in the first couple of weeks
to now thinking about it more

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from the patient's perspective,

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and then leading that
to how it might apply

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to your clinical practice as well.

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I never want to lose,

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lose track of the real meaning

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of what it is we're learning here,

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which certainly I'm sure to
you and to myself as well,

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is the impact that it can have

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on your patients and their families.

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So, we're bringing that back in

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for the assignment this week.

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You also have a quiz, and again,
take it up to three times,

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but hopefully you have a lovely weekend.

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Are able to finish up
your module three material

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and can get a jumpstart on this next week.

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Again, if you have any questions
or concerns along the way,

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please, please don't
hesitate to email or call me,

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or stop by if you're in the neighborhood.

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Love to see any of you.

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So, yeah, with that, I will close out

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and I look forward to hearing from you

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on the discussion board

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and jumping into this
modules material, take care.