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Hello, this is Dr. Bob Wilden,

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instructor for Genetics for Clinicians,

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and we are now on to module nine.

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This is the introductory video.

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We're learning a lot in this class

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and I hope that can continue
for a few more weeks

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and you can be focusing a little
bit of effort each week now

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on your final project,

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which is described in
detail in the syllabus.

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So I point you toward that

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to take a peek at sometime this week

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and make sure that you
are thinking about that

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and starting to plan that
and pull it together.

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All right, so this week's module is

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catching up from the previous module,

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which was basically prenatal to teens.

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And now we're getting older

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and we're going on two genetic disorders

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that primarily present in the
late teens to adult onset.

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And we'll talk just a little bit about

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what happens in the grave.

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So this module has a lot

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of reading in the book and that's

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because there's a lot of coverage

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of different genetic
disorders, their genetics,

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their features, and something about

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their management as well.

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In the book, it's actually
real well written,

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no particular disorder gets too much play,

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but there's a lot of stuff going on

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and we're talking about
both Mendelian disorders

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and disorders with complex inheritance

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or complex genetic properties.

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So it's a lot of material to go through.

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I wanna say that the
purpose is not for you

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to memorize everything that's there

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or to learn everything you need

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to know about those disorders.

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In fact, I'm hoping that
those disorders will have been

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or will be covered in other
classes in your curriculum.

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And the purpose of going
through them here is so

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that you cement them in
your mind in the context

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of genetics, heritability, family history

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and influence of genetics,

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whether it be monogenic, polygenic,

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multifactorial, et cetera.

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So don't get freaked
out about the reading.

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I have in compensation,

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kept the lecture material
relatively small this week,

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but it is not duplicating
what the reading is.

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So you have to do the reading.

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The lecture is through 36 minutes long

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and covers material
that's not in the book.

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It focuses on recent advances in

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a very interesting area
of clinical genetics

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that is not touched on by the book.

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And the lecture is a basis

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for the discussion board topic this week.

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So you do need to watch the
lecture for that reason.

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All right, other logistics,
I am adding back an ungraded

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Q and A discussion board so

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that if there are
questions about the reading

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or about specific disorders,
you can post them there

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rather than in the
graded discussion board.

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So the Q and A discussion
board is ungraded.

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You can post there or not as you like,

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won't affect your grade.

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With regard to clinical genetics
practice for teen to grave,

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I wanted to mention two topics

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that we're not really
covering in this module,

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but I wanted you to be aware of.

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First is the challenges
of transitioning a teen

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or young adult with a genetic disease from

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pediatric care to adult care.

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And that transition is hard for anybody

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with any kind of disease
because your providers change

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and that at a very difficult
point in your life.

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So there are lots of...

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There's a lot of effort
going on in general

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to find ways to make

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that transition more
seamless, less jarring,

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less apt to leave you in the lurch.

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But it's particularly important for people

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with genetic conditions,
inherited conditions

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because of their rarity and

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because they are inherited.

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And when you transition to adult

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and you start thinking
about reproducing yourself

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and your own children's genetic risks.

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So there's a lot there and
unfortunately we're not gonna

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cover that in this module,

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but I wanted you to be aware of that

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and keep that in the back of your mind.

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The second topic we're not
gonna cover that I wanted

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to point out in this introduction
is that genetic diagnoses

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and evaluations can happen
after death as well.

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Hopefully that happens before
you actually get buried,

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but they can happen either through autopsy

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or through the genetic testing of material

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from autopsy or DNA

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that you've banked away
while you're alive.

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And those can be used in the case

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of a non informative autopsy.

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So this is an early trend toward using

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a DNA testing for evaluation

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of unexplained deaths in young people.

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So we'll talk more about this when we talk

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about genetic testing later in the course,

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but I wanted to, since we're
talking about sort of that,

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the bookends of the lifespan
now, I wanted to bring that up

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as something that is a
potentially a possibility as well.

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Okay, so back to the module,

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beside reading the lecture
and the discussion board,

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there's of course the required

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besides reading, the lecture

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and the discussion board,

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there's of course the required
assignment and the quiz.

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You've all been doing really
well with these in the class.

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So I expect that excellence will continue.

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And if you have questions,

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you may ask your students

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if they have a different
perspective than you

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or if they're interpreting
that differently.

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The question differently, if
you can't get an answer there,

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then reach out to us.

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Next week we are going to specialize

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in a particular area, namely cancer.

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It's a really hot topic,

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has some very interesting
components to it.

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There's a lot of bringing
up some of the basics

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that we had talked about
early in the course

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and talking about it in
application in oncology,

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which is moving very fast.

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So I look forward to
working with you on that.

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But until then, I'm Bob Wilden
and thank you for learning.