Hello, this is Dr. Bob Wilden,
instructor for Genetics for Clinicians,
and we are now on to module nine.
This is the introductory video.
We're learning a lot in this class
and I hope that can continue for a few more weeks
and you can be focusing a little bit of effort each week now
on your final project,
which is described in detail in the syllabus.
So I point you toward that
to take a peek at sometime this week
and make sure that you are thinking about that
and starting to plan that and pull it together.
All right, so this week's module is
catching up from the previous module,
which was basically prenatal to teens.
And now we're getting older
and we're going on two genetic disorders
that primarily present in the late teens to adult onset.
And we'll talk just a little bit about
what happens in the grave.
So this module has a lot
of reading in the book and that's
because there's a lot of coverage
of different genetic disorders, their genetics,
their features, and something about
their management as well.
In the book, it's actually real well written,
no particular disorder gets too much play,
but there's a lot of stuff going on
and we're talking about both Mendelian disorders
and disorders with complex inheritance
or complex genetic properties.
So it's a lot of material to go through.
I wanna say that the purpose is not for you
to memorize everything that's there
or to learn everything you need
to know about those disorders.
In fact, I'm hoping that those disorders will have been
or will be covered in other classes in your curriculum.
And the purpose of going through them here is so
that you cement them in your mind in the context
of genetics, heritability, family history
and influence of genetics,
whether it be monogenic, polygenic,
multifactorial, et cetera.
So don't get freaked out about the reading.
I have in compensation,
kept the lecture material relatively small this week,
but it is not duplicating what the reading is.
So you have to do the reading.
The lecture is through 36 minutes long
and covers material that's not in the book.
It focuses on recent advances in
a very interesting area of clinical genetics
that is not touched on by the book.
And the lecture is a basis
for the discussion board topic this week.
So you do need to watch the lecture for that reason.
All right, other logistics, I am adding back an ungraded
Q and A discussion board so
that if there are questions about the reading
or about specific disorders, you can post them there
rather than in the graded discussion board.
So the Q and A discussion board is ungraded.
You can post there or not as you like,
won't affect your grade.
With regard to clinical genetics practice for teen to grave,
I wanted to mention two topics
that we're not really covering in this module,
but I wanted you to be aware of.
First is the challenges of transitioning a teen
or young adult with a genetic disease from
pediatric care to adult care.
And that transition is hard for anybody
with any kind of disease because your providers change
and that at a very difficult point in your life.
So there are lots of...
There's a lot of effort going on in general
to find ways to make
that transition more seamless, less jarring,
less apt to leave you in the lurch.
But it's particularly important for people
with genetic conditions, inherited conditions
because of their rarity and
because they are inherited.
And when you transition to adult
and you start thinking about reproducing yourself
and your own children's genetic risks.
So there's a lot there and unfortunately we're not gonna
cover that in this module,
but I wanted you to be aware of that
and keep that in the back of your mind.
The second topic we're not gonna cover that I wanted
to point out in this introduction is that genetic diagnoses
and evaluations can happen after death as well.
Hopefully that happens before you actually get buried,
but they can happen either through autopsy
or through the genetic testing of material
from autopsy or DNA
that you've banked away while you're alive.
And those can be used in the case
of a non informative autopsy.
So this is an early trend toward using
a DNA testing for evaluation
of unexplained deaths in young people.
So we'll talk more about this when we talk
about genetic testing later in the course,
but I wanted to, since we're talking about sort of that,
the bookends of the lifespan now, I wanted to bring that up
as something that is a potentially a possibility as well.
Okay, so back to the module,
beside reading the lecture and the discussion board,
there's of course the required
besides reading, the lecture
and the discussion board,
there's of course the required assignment and the quiz.
You've all been doing really well with these in the class.
So I expect that excellence will continue.
And if you have questions,
you may ask your students
if they have a different perspective than you
or if they're interpreting that differently.
The question differently, if you can't get an answer there,
then reach out to us.
Next week we are going to specialize
in a particular area, namely cancer.
It's a really hot topic,
has some very interesting components to it.
There's a lot of bringing up some of the basics
that we had talked about early in the course
and talking about it in application in oncology,
which is moving very fast.
So I look forward to working with you on that.
But until then, I'm Bob Wilden and thank you for learning.