0:13 a thirty year old female was diagnosed
0:16 with breast cancer she started with
0:18 standard chemotherapy combined with
0:23 hormone therapy many side effects too
0:26 much suffering without any great results
0:30 she keeps wondering why this therapy
0:31 does not work well for me
0:34 but works great for my 60 year old
0:38 neighbor who has also breast cancer I am
0:41 younger than here I should respond
0:45 better she decides to visit our genetics
0:49 clinic our genetic counselor suggests
0:50 that she needs to perform genetic
0:53 testing based on her family history of
0:57 breast cancer she found to be a carrier
1:00 of a pathogenic variant in a gene called
1:07 brca1 brca2 a repair and genomic stability
1:09 stability
1:12 she starts look new targeted therapy
1:16 with great results these drugs called
1:19 barbeque bitters work so specifically
1:22 when hitting a certain protein in cancer
1:26 cells making them died they're so
1:28 specific in the way they work that
1:31 usually only kill cancer cells without
1:34 killing any normal cells like in the
1:37 situation of chemotherapy also they're
1:40 given orally to patients so they don't
1:43 have to pay frequent visits to clinic
1:49 for frequent infusions so Chi genome had
1:51 the best answer for the ideal
1:55 therapeutic approach for her a precise
1:59 the medic diagnosis led to personalized
2:03 successful treatment more interestingly
2:06 these drugs can also be given with great
2:09 success in women who have been diagnosed
2:11 with ovarian cancer and who were also
2:14 born with the same genomic alteration in
2:18 brca1 gene this truly demonstrates the
2:21 paradigm of personalized genomics
2:25 developing target therapies against the
2:28 genetic causes of cancer even across
2:33 different cancer types finding a single
2:36 cure for cancer becomes virtually
2:40 impossible just because cancer even on
2:45 the same tissue is not one disease one
2:49 size does not fit all
2:52 cancer truly starts from our own body
2:55 our normal cells that start growing
2:59 suddenly without control and because
3:00 this dysfunction starts from our normal
3:03 cells in our own body these genetic
3:07 differences reflects us as individuals
3:10 add to that environmental influences
3:15 such as diet smoking habits or
3:18 microbiome or even influences above
3:23 genetics the so called epigenetics human
3:25 beings can be born with some genomic
3:29 alterations but also cancer can have
3:34 unique genomic alterations the so called
3:38 somatic mutation alone and we know for
3:40 example in colorectal cancers with
3:43 higher somatic mutation alone they have
3:46 better prognosis better outcome and
3:49 better response immunotherapy because
3:51 this genetic change is within the tumor
3:55 produce flora proteins that can be
3:58 recognized and attacked by our own
4:02 immune system a major breakthrough that
4:06 led to Nobel Prize in medicine last year
4:09 the concept of personalized medicine is
4:13 not known Epocrates the father of
4:15 Western medicine was the first who
4:17 introduced the term of India syngress II
4:21 in which certain individuals have unique
4:24 characteristics that either predisposes
4:27 us or protects us from certain diseases
4:31 and the therapeutic approach really is
4:33 based on this inducing graddic differences
4:34 differences
4:38 yes genomics really gives us the chance
4:41 to practice medicine in also preventive
4:44 mode not only by focusing on people who
4:47 already have got the disease for example
4:50 let's think for a moment what if the 30
4:53 year old female had done genetic testing
4:56 before she was diagnosed with breast
4:58 cancer due to her family history of
5:01 breast cancer she would have known that
5:03 she was born with his genomic alteration
5:06 which increases dramatically her
5:07 likelihood of developing this disease
5:10 during her lifetime this knowledge would
5:13 give you the chance to take action if
5:15 she wanted for example precautious
5:18 measures preventive mastectomy or at
5:20 least start mammograms earlier in her
5:25 life cancer is a great example showing
5:28 the importance of the genomics in our
5:32 life but it's definitely not the only
5:35 one there are so many genetic diseases
5:38 for which the genetic diagnosis has
5:42 proved to be so important for us for
5:43 example cystic fibrosis
5:46 a very serious at their genius disease
5:48 caused by about 1,000 different
5:51 pathogenic alterations in one single
5:54 gene it is list that was incurable till
5:59 recently however a few weeks ago FDA for
6:02 the first time approved a drug that can
6:05 be successfully given to patients with
6:06 the most common cystic fibrosis
6:14 alteration translational research can be
6:17 a multidisciplinary effort and during my
6:19 doctoral studies I had the pleasure to
6:22 work closely with one of our patients
6:27 his name is Paul his journey nicely
6:30 illustrates our scientific approach from
6:34 the bench to the bedside he was
6:36 diagnosed with bilateral kidney cancer
6:39 at the age of 33
6:45 no symptoms no family history when he
6:47 did his personal effect on me we
6:50 isolated the tumor and created the DNA
6:52 in the lab where we wanted to study in
6:56 depth in a very precise genomic level to
6:58 see if there is any genetic etiology
7:03 behind his cancer again she did not have
7:05 any family history so we're really
7:08 intrigued to see why this cancer has arrived
7:10 arrived
7:13 he's now happily married with two
7:19 children however his wife had multiple
7:23 miscarriages in the past so the products
7:27 of conception were tested and it was
7:30 found that they carry a chromosomal
7:33 abnormality chromosomes are they
7:36 entities that carry our genetic
7:42 information our genes and something can
7:44 go wrong like it can go wrong for our
7:48 genes for example we can have totally
7:50 loss of a piece of chromosome meaning
7:54 missing a whole genetic material all for
7:57 example you can have a phenomenon called
8:00 balanced translocation in which piece of
8:02 one chromosome has been translocating on
8:05 the other chromosome in this situation
8:07 most of the times we don't have any
8:09 disease because we don't have any loss
8:12 of information the genes has just
8:15 translocated but what has happened in
8:19 this situation so once we found out that
8:20 the products of conception had this
8:23 chromosomal defect the next logic
8:26 question was to test the parents and see
8:30 if this was inheriting condition so Paul
8:32 came to our genetics clinic and we
8:36 isolated his DNA now not from his humor
8:38 like we did before but from his
8:42 lymphocytes to see if he was born with
8:44 this chromosomal defect we use a
8:46 technique called spectral karyotyping
8:50 where we use different probes different
8:53 colors to visualize it
8:55 have any abnormality on the chromosomes
8:59 if everything is normal the chromosomes
9:02 have one Huma Collier but in the case of
9:04 the chromosome abnormality the balanced
9:07 translocation we see dual color on
9:11 chromosome three innate so we found out
9:16 that Paul was born with this balanced
9:19 translocation defect but how this
9:23 phenomenon is associated with weeklies
9:27 kidney cancer we found that the
9:32 translocation occurs at the breakpoints
9:36 and because of this phenomenon part of
9:38 one gene of the breakpoint has been
9:40 joined with the part of the other gene
9:42 on the other breakpoint and we have the
9:46 generation of a new fusion gene a new
9:50 gene is expressed normally the two genes
9:52 of the breakpoints are asked humour
9:56 suppressor genes meaning if everything
9:59 is fine then hibbett humor progression
10:02 but the translocation occurred within a
10:04 functional domain of the gene and
10:06 probably they compromised their normal
10:13 function so we found a link between this
10:15 chromosomal defect and the likelihood of
10:18 kidney cancer
10:21 Paul now knows that he was born with his
10:25 defect and this knowledge gives him the
10:27 power in the choice to monitor this
10:30 condition very frequently by having
10:33 regular screenings visiting his doctor
10:37 more interestingly though during his
10:40 last surgery we were able to isolate his
10:45 newly developed tumor and create him a
10:49 cancer cells in culture so now Paul has
10:54 his unique customized cell line that can
10:57 be further manipulated in the future
11:01 possibly for a future tailored therapy
11:05 for him it sounds really challenging
11:10 and it is but knowing the mechanism of
11:13 the disease in our field is the first
11:19 step to us challenge is a motivation a
11:22 motivation that probably will benefit
11:27 not only boy but also future generations
11:31 and other people that are predisposed to
11:33 develop in kidney cancer due to this
11:40 specific chromosomal defect so genomic
11:44 medicine is a great tool that if used
11:48 properly can really help us lead a good
11:55 life the well-being as ancient Greeks
12:00 said f same because genomic medicine
12:04 gives us that opportunity to detect and
12:08 predict a disease before it becomes
12:12 life-threatening and honestly profession
12:17 is the best treatment and also it gives
12:21 us tailored specified therapies for
12:25 unique bodies for example the therapy in
12:27 cystic fibrosis for patients who have
12:32 the most common alteration or the same
12:34 therapy to women with breast and ovarian
12:38 cancer two different types of cancer two
12:43 different organs same drug because of
12:44 the same genomic alteration that has
12:49 caused the disease so we're really
12:51 shifting our efforts from creating the
12:54 disease to treat the individual who have
13:00 the disease we know how life works what
13:03 might go wrong and what we can do about
13:08 it and of one patient centric studies
13:11 gives us the opportunity to elucidate
13:13 the mechanism of the disease in a very
13:16 precise genomic level
13:21 and we cannot really fix something that
13:24 we don't know it is broken or why it is
13:30 broken genomic medicine is like a
13:34 butterfly effect where individual
13:38 actions every day can eventually lead
13:47 personalized genomics is not so personal
13:51 as it might sound thank you [Applause]
