[Instructor] All right, this is
the last lecture in the last module,
the first and last lecture in the last module.
So first, let's think about wellness.
Now, this topic is particularly interesting to me,
because it's actually looking at things
from quite a different perspective.
Instead of the disease-oriented perspective,
looking at different interventions that people can take
for their own wellness and the impact that might have
from a genetic perspective.
So there's several studies
on the genetic and genomic effects of meditation.
So here, mental wellness and providing focus.
There are many studies on the health benefits of meditation
and the reduction in stress that comes along with that.
But in addition, researchers have also looked at
the genetic impact from a couple of different angles,
and have found,
there actually are several studies,
several fairly large studies,
that have looked at the effects of meditation
on different aspects of genetics.
In particular, one study that came out,
actually I think it came out,
yeah, it came out this year,
really recent study that came out
looking at breast cancer survivors
and assessing their cells for changes
in a measure of chromosome stability,
which is telomere length.
And if you remember from way, way back
towards the beginning of the semester
when we were talking about the anatomy of a chromosome,
the very end caps, the very ends,
the tips of the chromosomes are the telomeres.
These are specific structures that are designed
to like cap the ends of the chromosome
and to keep them nice and compacted.
It's sort of like the analogy
of the little piece of plastic cap
on the end of shoe laces
that keeps the shoe laces from unraveling.
That's sort of like what a telomere does.
It basically caps off the end of the chromosome
to kinda keep it all condensed and nicely-formed.
Through time and with age,
the telomeres for all of us start to shorten.
Each time the cell divides,
the telomere gets a little bit shorter.
Well, what they found was that
there was improved telomere stability
in the patients that went to the part of the trial
where they were undergoing meditation,
compared with those who just sort of sat quietly
or did a quiet activity,
but not actually engage in meditation
for the same amount of time.
When they compared them,
those who meditated had improved telomere stability,
which leads to improved chromosome stability,
which as we know is important to reducing cancer risk
and reducing overall damage to the cell.
So that's an interesting study.
Another study looked at epigenetic changes
in peripheral blood mononucleocyte cells,
and so they took blood sample from folks who had,
I think similarly either just been sort of sitting quietly
or engaging in activities of their choice quietly,
compared to folks who were meditating
for a certain amount of time.
And what they found was that they noticed
a difference in epigenetic modifications,
specifically in pro-inflammatory genes.
So those genes that code for proteins that would induce
or enhance inflammation throughout the body.
And so basically what the epigenetic changes
were associated with reducing expression of those genes.
So it would be like cooling down inflammatory response,
that as we know from actually
many different disease states
are associated with inflammation
or worsened by inflammation.
So reducing the inflammation response in the body
is actually very likely to be quite beneficial
for a number of different conditions.
So that's an interesting tidbit that came out.
Another was actually looking at DNA methylation
and gene expression in fat cells
in individuals who either led a sedentary life
and were randomized to either continue a sedentary life,
and compared those individuals to folks
who lead sedentary lives
and then started an exercise program.
And they compared the fat cells
of those two different groups.
And what they found was that in folks
who started an exercise regimen,
a regular aerobic exercise regimen,
that they identified over 7,000 genes in the fat cells
whose DNA methylation and gene expression was affected.
And many of those genes are known to play a role in obesity
and Type 2 diabetes risk,
there's been some association there.
So what is this actually telling us?
Well, we already know exercise is good for you.
Exercise reduces Type 2 diabetes and reduces obesity.
But now maybe we're starting to understand
why that's the case, and we can start to see that
this really direct correlation between lifestyle,
exercise, even meditation, as we talked about before,
and the end gene expression,
what's going on inside your cells
from a genetic perspective.
So I find this to be really quite fascinating
and an interesting twist on the old belief
that, you know, your genetics are your genetics
and you get what you get at birth, or at conception, rather,
and, you know, that's the hand you're dealt.
Well, what we're actually seeing is that
there's a lot more adaptability,
a lot more flexibility in that.
And we're starting to better understand why the lifestyle
and behavior choices that we know to be beneficial,
why that's actually the case from a molecular level.
So that's some tidbits from the wellness side of things.
I have a few articles and,
you know, popular press articles
and some research articles posted if you're interested.
All of this is of course optional
in the reading section this week.
It's more of a resource folder.
So, if it's something you want to
dive into a little bit more, it's there for you.
Feel free to use that.
Okay, well those were the topics that I had
to give you just a little bit about.
Now, I'm gonna walk you through some helpful resources,
at least helpful for me that I've used in the past
and used currently that you might like
or might like to use on occasion.
And this would be in addition to,
these are the additional resources
other than ones I've shown you
and that we've used throughout the course,
like Genetics Home Reference and, you know, the EGAP,
and all the other ones that we've talked about.
So here's just a couple more.
One is Online Mendelian Inheritance in Man.
Since that is a mouthful we call it OMIM, for short.
And this is like a clinical geneticist go-to resource
to search human genes and phenotypes.
And they give a lot of technical details.
I'm gonna see if I can go to the site and show you.
Okay, so this is OMIM, and it's indexed on the NCBI site.
So this is the same place where you would go
for PubMed if you were looking for
a primary research article, for example.
But you can just use the link that I provided you
or you can do a Google search for OMIM.
I think it comes up as the first or second hit from that.
So here you can type in a disease
or a gene that you might be interested in.
Let's say that you're interested in
looking at cystic fibrosis.
Let's search for that.
Okay, so this gets really pretty technical,
and I think it's a great resource to use,
fantastic resource to use,
but it is not terribly user friendly.
And you know, you'll get a lot of results for things,
and it's gonna take some time to kinda search through them
and figure out what it is you're looking for.
So the more specific you can be in your search,
the better you'll end up doing with it.
But let's look, let's see if we can even find something.
Okay, here's, so way down here is the actual disease.
So, this is why it's a little bit more complicated
to use than, say, Genetics Home Reference,
but let's just click on it.
And so you can see this is the disease.
So cystic fibrosis.
And it's going, you can see on the right-hand side
there's a Table of Contents.
So if you're looking for something in particular,
let's say you want to know the pattern of inheritance
and the mode of inheritance,
you can just click on Inheritance,
and it'll bring it up for you.
There's a lot that's, I mean, cystic fibrosis,
there's a lot known about it,
so there's gonna be a lot here.
But for each disease,
it's going to have a lot of information.
GeneReviews.
Okay, here, this looks a little strange,
because it looks like it's a book.
It is, I guess, technically a book,
but it's curated and updated online,
and it's fully available, free to use.
It's updated regularly by clinical geneticists.
It's a great resource.
So, let's try the same thing here.
So let's try cystic fibrosis again.
Okay, if you click on the,
it'll give you a bunch of options here.
Some are more specific articles.
But if we just want, say,
like the review of cystic fibrosis
and all the information that they have on it,
we would click on the GeneReviews tab for that,
that came up.
And here now we are within GeneReviews,
and we could select what we're interested in.
This is actually Cystic Fibrosis-Related Disorders,
and this is gonna give you some definitions,
diagnosis, and testing.
This is very clinically oriented,
so it's GeneReviews primarily oriented
for health professionals to use to understand
and to kind of have one place to go for
everything you see here on the right-hand side,
Diagnosis, Clinical Characteristics,
Differential Diagnosis, Management,
Genetic Counseling.
Some of it gets really, really detailed, again,
but I find that GeneReviews
is actually more readable than OMIM. (laughing)
So, if you are looking to dive in deeper,
maybe start with GeneReviews, and then go to...
Okay, the sequence of events that I normally take is
actually Genetics Home Reference number one,
so I have a sense of what it is I'm looking at.
Then I go to GeneReviews, then I go to OMIM,
because it gets increasingly more dense with each of those,
and more informative.
But if your answer can be found in Genetics Home Reference,
then I'd say start there,
so you can save yourself the time of reading through
what can be a lot of information from these other resources.
Okay, so that's GeneReviews.
Another one, this is actually
a weekly updated site from the CDC.
So it's kind of like news and updates
from the clinical side of things
on genomics and genetics and...
All right, and then another one is PharmGKB,
which is The Pharmacogenomics Knowledge Database,
which is what PharmGKB stands for.
This one's an interesting one.
If you do a search, let's say you want to,
you know, you can do a search number of different ways.
You can go to the search tab at the top
and actually tell that you wanna search
by Genes, Drugs, Diseases, or Pathways.
Or you can type into the search bar at the top.
Let's say we are curious about warfarin.
All right, let's select warfarin.
Let's see what information they have on that.
Probably a lot, because there's a lot known about warfarin.
So this will give you some dosing guidelines,
and you can click into that and read more.
They update it regularly.
So as new information comes out, as new guidelines come out,
it will be updated as such.
Okay, and in addition to that, you can see Drug Label,
which can be really helpful to...
This is the FDA label, and you can click on that,
and it will bring up...
Oh, here it is.
It'll show you the actual label
and the specifics around that.
That's Clinical.
You can also look in their Research tabs.
So across the top here, you can look through
all the different tabs.
Clinical's probably gonna be most relevant,
but then there's also research that is out there
and that they've annotated here.
Overviews that you can search through.
Properties, mechanism of action,
Pathways, which can be, you know, can be interesting,
but it gets really into the details
of how these drugs are working.
So, all right, so those are the resources that I use,
in addition to the ones we've already talked about.
It seems like many of you have found others,
and hopefully, you know, you kinda compile those together,
and you'll have that ready to go for the second part
of the final paper, just the briefly annotated list
of helpful resources.
Okay, genetics specialist in Vermont.
I have pictures on the right-hand side for each of them.
The first I'd like to mention is Leah Burke,
and she is in Pediatrics,
and also leads the Vermont Regional Genetics Center,
which is located pretty much across the street
from the emergency department.
Well, sort of where the Harvest Cafe is,
if you're familiar with the UVM MC Burlington Campus.
It's across the street in a little white house,
across the street from the entrance to the hospital
off of Colchester Avenue.
And Leah Burke is a wonderful person.
She's a colleague, and someone that I work with quite a bit.
And she leads the team of genetic counselors as well.
And you can find information on how to contact her
as well as I have these links for
all the clinicians I have listed here,
but I'll just click on her
so you can see what it looks like.
This will give you a phone number, fax number,
insurance, address, all that good stuff, to reach Dr. Burke,
and, you know, especially if it's,
you know, useful for a patient, to maybe see.
Her specialty, again, is Pediatrics.
And so if you, if you have a patient,
you know, where it would be most appropriate for them
to see someone in clinical pediatrics,
or you know, neonatal, that would be more her realm.
Stephen Brown is an OB/GYN.
And so that would be, again,
if you have someone who
this would be more in the prenatal setting,
or if they're interested in in vitro fertilization,
he would be the clinician to talk to.
There, again, you can click on the links given,
and that'll give you information to contact them.
Turning to the cancer side of things,
there's the Vermont Familial Cancer Program,
and the Director is Marie Wood.
And so this would be, you're detecting a,
there's, say a family history of cancer for someone.
There's red flags coming up,
someone that you're working with,
and you know, you're not really sure where to refer them,
'cause they don't necessarily,
they're not symptomatic of cancer
or have any signs themselves,
but it may be helpful for them
to talk with the genetic counselor,
to talk with the clinical oncologist
who specializes in genetics,
I'd encourage you to direct them
to the Familial Cancer Program.
And then they may have an appointment with Marie Wood
or Marc Greenblatt also works there,
or the genetic counselor that I'll show on the next page
who specifically works in cancer.
So these are the specialists here in Vermont.
And then if we look at genetic counselors in Vermont,
we'd have Wendy McKinnon,
who specializes in cancer genetics,
and she's the Genetic Counselor
for the Familial Cancer Program.
So if you do have a patient, as I described,
family history, red flags, concerns,
if they make an appointment
through the Familial Cancer Center,
most likely they'll have an appointment with Wendy,
and she works directly with Marc Greenblatt and Marie Wood
and others in that program,
to know kinda what the next steps are.
But she is the one who the patient
would likely sit down with
and have an appointment to discuss
and take a full family history, you know,
pedigree of everything you can imagine,
as much information as you can get.
And she would help with
the patient education aspect of it as well.
Other genetic counselors that,
again, they all work with Dr. Leah Burke
in the Vermont Regional Genetics Center.
So, you know, kind of calling that one number
that's listed for the Vermont Regional Genetics Center,
which is the same number for Leah Burke
or for really, I think, any of these genetic counselors
would get you to the same place.
So Christine Giummo specializes in pediatric genetics,
so she works a lot with Leah Burke.
Leanna Haskin-Leahy is kind of
across a lot of different areas, prenatal, pediatric,
adult genetic counseling.
As well as Denise Bonyun.
So, yeah, you don't need to contact them separately.
I think if you call the one
Vermont Regional Genetics Center,
they can help direct you to the right person
to work with or to refer to.
All right, so that's my list that I know of.
And, you know, certainly there may be others,
but these are the folks that are in the UVM MC system
that are trained in genetics
and genetics health specialists.
Okay, well that sort of takes us to the end here,
and let's just take a little trip down memory lane,
because, I think it's helpful to do that,
just to see how far we've come
throughout this relatively short time in this semester.
You think back to January,
from January to where you are now,
remember back way back then,
we started with the fundamentals of genetics,
the very basics of here's a cell,
inside a cell's a nucleus, inside the nucleus,
dah dah dah dah dah, and you all know that so well now.
And then we moved to aneuploidy, chromosomal abnormalities,
and you know, sort of looking
at those large scale issues that might happen.
And we also talked about mutations as well,
more specific, narrower mutations.
And we talked about patterns of inheritance, too,
dominant, recessive, you remember them all.
And then we talked about gene expression,
regulation, epigenetics.
And you're starting to hear that come up a lot,
and that came up quite a bit
towards the end of this semester,
and even in this lecture,
about the role of epigenetics
in some of these more complex multifactorial diseases.
Taking family health history and doing risk assessment,
and some tips and strategies there.
The ethical, legal, and social implications
that are vast and many, as we start to appreciate
where those might exist for patients and their families
and healthcare providers.
Genetic testing across the lifespan,
when, where we might do it,
and for what purpose we might use those tests.
And then we got into some more, you know,
more complicated topics that
I think are really quite fascinating,
including immunogenetics, cancer genetics,
psychiatric disorders, and public health genetics.
And that's brought us to where we are now,
where I can deliver to you a lecture that,
you know, which is talking about
genome-wide association studies,
talking about linkage studies,
talking about DNA methylation,
talking about these concepts
that you have become familiar with
over the course of this semester,
and I'm hoping will serve you as a foundation
for continued education and expansion of your knowledge
and application of genetics and genomics in your field.
So with that, I want to say thank you so much
for your engagement, for your hard work,
for your dedication, for your time,
your precious, precious time.
This was not an easy course,
and you made it successful,
and I am just incredibly impressed
by how each of you has grown and progressed
over the course of the semester
and the dedication you've shown to the course.
So thank you so much for that.
Thank you, thank you many times over,
and I certainly intend to be available,
be around for you for the rest of this semester, certainly.
But then anytime beyond that,
anytime you ever wanna talk about something,
you just wanna send me something interesting you find,
or you have a question on something, please,
please don't hesitate to stop by,
send an email, phone call, whatever.
I would be more than thrilled to continue our relationship
beyond the duration of this semester.
But in the context of this semester,
thank you very much, and I very much appreciate it.
It's been an absolute pleasure
to have each of you in the course,
and I look forward to continuing
to work with you each in the future.
Thanks so much, bye-Bye.