>> I'm Uta Francke. I'm a human
geneticist originally from Germany, as you can hear.
And I'm a Emeritus Professor here at Stanford
and also a senior medical director at 23andMe.
>> Tell us when you first fell in
love with genetics and when you started studying
and sort of your journey to where you are today as a, as a Stanford professor.
>> I went to medical school in Germany and
then I trained in pediatrics. I came to this country
to train at Los Angeles Children's Hospital. And then
I had to think about what else to do and
what I really wanted to do was endocrinology because I
love biochemistry. I thought biochemistry was the best thing in
medical school. But I couldn't get in as a
foreign medical graduate. And genetics was just in the beginning,
started to get interesting. It was just at the time
where it became possible to identify chromosomes by chromosome banding.
And there weren't many people going into that
field which had a great advantage because as a
fellow at UCLA in, in human genetics I was
allowed to do anything. I could learn chromosomes, biochemical
genetics as well as the, the patients on
the wards where people said, oh, what is this
my formation is it a syndrome, is it genetic,
will it happen again. So, the training involved from
the beginning, clinical genetics and then other sub-specialties of genetics.
>> Were you able to interact in, in, in I guess, medical
school and beyond as you were sort of discovering the area that you
were sort of going to focus on for, for genetics? At the
same time, were you able to experience the clinical side of genetics as well?
>> All the time. I was active in clinical genetics
for the last 30-something years.
>> And what does that involve exactly?
>> Well, in pediatrics, you're mostly focused on children having problems. So
either children who inherit something or children who get very sick after
they are born because they cannot metabolize protein, there's something wrong in
their metabolism, or children who have certain birth defects. Children who don't
do well in school, who are late walking,
who are late acquiring skills or have neurological
symptoms, seizures. So all kinds of problems that
people didn't know what is this. So there was
a lot of discovery to do. We found
out that certain clinical phenotypes were associated with
chromosomal duplications or deletions now that we could
look at chromosomes in higher resolution. So, that was
the first stage, so in the 70s, make
discoveries this way. And now of course whole genome
sequencing is applied to these children. And when
nobody had, could figure out what caused their problem,
you look at the whole sequence and you
can find a change. And that's been very successful
in the last couple of years since high, high-throughput
sequencing methods were developed. So, the exciting thing about
my own career is a two-way street, it's always been
two ways between the clinic and the laboratory. You see
somebody fascinating in the clinic and you bring samples to
the lab and you tell your PhDs, look, this is
what the patients look like and we have to figure
out what's going on here. And that gets everybody motivated.
And you learn something in the lab. You find a
gene, like we found the gene for Rett syndrome and
then you can figure out, can we do anything
to help these patients now that we have the gene
we figure out its function. In the last few
years we spend a lot of time making mouse models.
>> Mm-hm.
>> Because we looked at diseases that involved the central nervous
system and you can't go into a human brain and take a
sample. I mean some people have part of the brain removed because
of some medical indication and then of course you can get it.
But what we did make mouse models because
the genome is very conserved between the human and
the mouse. And even though we're working with deletion
syndromes, where part of a chromosome is missing, we
can define where in the mouse genome that part
is located. Its got the same genes in it.
Take it out in the mouse and then you
have mice that you can study the development prenatally.
Afterwards, take the brain, cut it up, look at what's going on.
And this is what we did mostly in, while in this millennium
[UNKNOWN].
>> What, what would you say is your, your general research subject?
>> There were too many to mention. I really started
out with whatever was possible to do at the time.
>> Mm-hm.
>> You know I was in a way driven by technology that was being developed and I
saw where this technology could be applied to the,
the problem. So it started with cytogenetics in the
area of banding chromosomes, that was in the 70s. And then biochemical
genetics, somatic cell genetics meaning that you can fuse cells from different
organisms and you can map chromosomes. So in the beginning of the genome
project we were very much invested in mapping genes to chromosomal regions.
>> Mm-hm.
>> With the idea if you have a
gene that's been cloned and you know the function,
you map it to a chromosome region where we
already know a certain disease gene has been mapped,
then becomes a candidate gene for this disease. And
that was a useful approach in the early 90s.
>> Mm-hm.
>> And then as all these other
technologies became available to study global gene
expression patterns and doing mouse modeling. And
we then we moved to studying individual diseases,
like Rett syndrome and Roberts syndrome and some eye
formation syndrome. And ultimately, I thought the deletion syndromes, where
you take out a chunk of chromosome and, would
be interesting because there are many different genes in there.
>> Mm-hm.
>> And which of these genes contribute to what part of the phenotype. I
found that fascinating. And that's was the project we're working on in the end.
So it, it's a step-wise process of discovery that
makes use of the technology as it is being developed.
>> So is thinking about what you do as a career what
do you think the future is for people who are interested in being
clinicians and bridging the gap between you know, people and the research that
can help them. Do you think there's going to be a bigger opening
in, in, in the future for people who want
to, who want to so do something similar to,
to what you're doing? Well there was definitely a
need and there are many opportunities. But the drawbacks are
in genetics for example, we don't have enough people
coming into medical genetics out of the medicine side because
in genetics, you don't make any money. We don't
have procedures. We don't, don't stick tubes into people that
we can charge for. It's all cognitive. You
know, you spend a lot of time going through
complicated information, searching the literature, sitting down with the
family counseling them. You don't get reimbursement for this.
>> Sure.
>> And therefore it's not attractive, not if, not
for people who went to American medical schools and
to enter a career of a medical geneticist. So
we have a shortage and many of the most
successful people are foreign trained medical, medical doctors.
So don't have to pay for their medical education.
>> But we hopefully have a, a very
large international audience you know, participating in our course.
>> Mm-hm, mm-hm.
>> What would you say to a student or a
life time learner who's watching and is really interested in
this subject and may even be interested in thinking about
this as a career. What advice would you give them?
>> I mean I can only say this has been a lifetime
learning experience to be part of genetics during those
decades when everything developed and we are not done
yet. I think it goes on and will be
even more exciting. There are many secrets in the
genome that are yet to be unraveled and both
PhDs and, and MDs should consider this. And then
genetic counseling, that's a whole new career path. We
have a training program here at Stanford for genetic counselors.
It's a masters program because you don't have to have a PhD or an MD
to tell people, this is what we found in your sequence and this is what it
means. And these people are trained specifically to
do that. And we'll need a ton of
them, lots of them. So I want to encourage people to consider this as a career.