Genomic medicine offers a paradigm shift from one-size-fits-all treatments to highly personalized approaches, enabling precise diagnosis, targeted therapies, and even preventive strategies for a wide range of diseases, particularly cancer.
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a thirty year old female was diagnosed
with breast cancer she started with
standard chemotherapy combined with
hormone therapy many side effects too
much suffering without any great results
she keeps wondering why this therapy
does not work well for me
but works great for my 60 year old
neighbor who has also breast cancer I am
younger than here I should respond
better she decides to visit our genetics
clinic our genetic counselor suggests
that she needs to perform genetic
testing based on her family history of
breast cancer she found to be a carrier
of a pathogenic variant in a gene called
brca1 brca2 a repair and genomic stability
stability
she starts look new targeted therapy
with great results these drugs called
barbeque bitters work so specifically
when hitting a certain protein in cancer
cells making them died they're so
specific in the way they work that
usually only kill cancer cells without
killing any normal cells like in the
situation of chemotherapy also they're
given orally to patients so they don't
have to pay frequent visits to clinic
for frequent infusions so Chi genome had
the best answer for the ideal
therapeutic approach for her a precise
the medic diagnosis led to personalized
successful treatment more interestingly
these drugs can also be given with great
success in women who have been diagnosed
with ovarian cancer and who were also
born with the same genomic alteration in
brca1 gene this truly demonstrates the
paradigm of personalized genomics
developing target therapies against the
genetic causes of cancer even across
different cancer types finding a single
cure for cancer becomes virtually
impossible just because cancer even on
the same tissue is not one disease one
size does not fit all
cancer truly starts from our own body
our normal cells that start growing
suddenly without control and because
this dysfunction starts from our normal
cells in our own body these genetic
differences reflects us as individuals
add to that environmental influences
such as diet smoking habits or
microbiome or even influences above
genetics the so called epigenetics human
beings can be born with some genomic
alterations but also cancer can have
unique genomic alterations the so called
somatic mutation alone and we know for
example in colorectal cancers with
higher somatic mutation alone they have
better prognosis better outcome and
better response immunotherapy because
this genetic change is within the tumor
produce flora proteins that can be
recognized and attacked by our own
immune system a major breakthrough that
led to Nobel Prize in medicine last year
the concept of personalized medicine is
not known Epocrates the father of
Western medicine was the first who
introduced the term of India syngress II
in which certain individuals have unique
characteristics that either predisposes
us or protects us from certain diseases
and the therapeutic approach really is
based on this inducing graddic differences
differences
yes genomics really gives us the chance
to practice medicine in also preventive
mode not only by focusing on people who
already have got the disease for example
let's think for a moment what if the 30
year old female had done genetic testing
before she was diagnosed with breast
cancer due to her family history of
breast cancer she would have known that
she was born with his genomic alteration
which increases dramatically her
likelihood of developing this disease
during her lifetime this knowledge would
give you the chance to take action if
she wanted for example precautious
measures preventive mastectomy or at
least start mammograms earlier in her
life cancer is a great example showing
the importance of the genomics in our
life but it's definitely not the only
one there are so many genetic diseases
for which the genetic diagnosis has
proved to be so important for us for
example cystic fibrosis
a very serious at their genius disease
caused by about 1,000 different
pathogenic alterations in one single
gene it is list that was incurable till
recently however a few weeks ago FDA for
the first time approved a drug that can
be successfully given to patients with
the most common cystic fibrosis
alteration translational research can be
a multidisciplinary effort and during my
doctoral studies I had the pleasure to
work closely with one of our patients
his name is Paul his journey nicely
illustrates our scientific approach from
the bench to the bedside he was
diagnosed with bilateral kidney cancer
at the age of 33
no symptoms no family history when he
did his personal effect on me we
isolated the tumor and created the DNA
in the lab where we wanted to study in
depth in a very precise genomic level to
see if there is any genetic etiology
behind his cancer again she did not have
any family history so we're really
intrigued to see why this cancer has arrived
arrived
he's now happily married with two
children however his wife had multiple
miscarriages in the past so the products
of conception were tested and it was
found that they carry a chromosomal
abnormality chromosomes are they
entities that carry our genetic
information our genes and something can
go wrong like it can go wrong for our
genes for example we can have totally
loss of a piece of chromosome meaning
missing a whole genetic material all for
example you can have a phenomenon called
balanced translocation in which piece of
one chromosome has been translocating on
the other chromosome in this situation
most of the times we don't have any
disease because we don't have any loss
of information the genes has just
translocated but what has happened in
this situation so once we found out that
the products of conception had this
chromosomal defect the next logic
question was to test the parents and see
if this was inheriting condition so Paul
came to our genetics clinic and we
isolated his DNA now not from his humor
like we did before but from his
lymphocytes to see if he was born with
this chromosomal defect we use a
technique called spectral karyotyping
where we use different probes different
colors to visualize it
have any abnormality on the chromosomes
if everything is normal the chromosomes
have one Huma Collier but in the case of
the chromosome abnormality the balanced
translocation we see dual color on
chromosome three innate so we found out
that Paul was born with this balanced
translocation defect but how this
phenomenon is associated with weeklies
kidney cancer we found that the
translocation occurs at the breakpoints
and because of this phenomenon part of
one gene of the breakpoint has been
joined with the part of the other gene
on the other breakpoint and we have the
generation of a new fusion gene a new
gene is expressed normally the two genes
of the breakpoints are asked humour
suppressor genes meaning if everything
is fine then hibbett humor progression
but the translocation occurred within a
functional domain of the gene and
probably they compromised their normal
function so we found a link between this
chromosomal defect and the likelihood of
kidney cancer
Paul now knows that he was born with his
defect and this knowledge gives him the
power in the choice to monitor this
condition very frequently by having
regular screenings visiting his doctor
more interestingly though during his
last surgery we were able to isolate his
newly developed tumor and create him a
cancer cells in culture so now Paul has
his unique customized cell line that can
be further manipulated in the future
possibly for a future tailored therapy
for him it sounds really challenging
and it is but knowing the mechanism of
the disease in our field is the first
step to us challenge is a motivation a
motivation that probably will benefit
not only boy but also future generations
and other people that are predisposed to
develop in kidney cancer due to this
specific chromosomal defect so genomic
medicine is a great tool that if used
properly can really help us lead a good
life the well-being as ancient Greeks
said f same because genomic medicine
gives us that opportunity to detect and
predict a disease before it becomes
life-threatening and honestly profession
is the best treatment and also it gives
us tailored specified therapies for
unique bodies for example the therapy in
cystic fibrosis for patients who have
the most common alteration or the same
therapy to women with breast and ovarian
cancer two different types of cancer two
different organs same drug because of
the same genomic alteration that has
caused the disease so we're really
shifting our efforts from creating the
disease to treat the individual who have
the disease we know how life works what
might go wrong and what we can do about
it and of one patient centric studies
gives us the opportunity to elucidate
the mechanism of the disease in a very
precise genomic level
and we cannot really fix something that
we don't know it is broken or why it is
broken genomic medicine is like a
butterfly effect where individual
actions every day can eventually lead
personalized genomics is not so personal
as it might sound thank you [Applause]
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