Biología Molecular Plegable New discoveries of elements involved in genetic alteration and tools to find them

1. New discoveries of
elements involved in
genetic alteration and
tools to find them
Made by Daniela Herrera Cardona
Molecular Biology
Professor: Lina Mar9nez
UPB

2. New discoveries of
elements involved in
genetic alteration
and tools to find
them
Made by Daniela Herrera Cardona
Molecular Biology
Professor: Lina Martínez
UPB
Medical Utility
All these studies that have been taken place
durings the lastes years are usefull to
medicine right now because they’re finding a
way to inform which problem or alteration in
the genome is the one that makes cells be
cancerous.
All these tools could be very usefull to
doctors, in a way that it makes it easier
getting to know a treatment that can surely
works, for example, in certain types of cancer.
Finally all these advances occured thanks to
all these scientifics that hardworking are
finding diferente ways to not only know the
reason of things but more importar to find
ways to correct them if they’re wrong.
BIBLIOGRAPHY
1. Babraham Institute, The. (2017, July 4).
Mapping genes could improve cancer
diagnosis. ScienceDaily. Retrieved July
22, 2017 from www.sciencedaily.com/
releases/2017/07/170704093912.htm.
2. University of Seville. (2017, June 30).
New elements responsible for instability
in chromosomes. ScienceDaily.
Retrieved July 29, 2017 from
www.sciencedaily.com/releases/
2017/06/170630105026.htm
3. Mandal, D. A. (14 de January de 2014).
Gene Therapy History. (S. Robertson,
Ed.) News Medical Life Sciences . Taken
from http://www.news-medical.net/
health/Gene-Therapy-History.aspx

3. Genes Mapping
Nowadays we know that cancer cells due to
changes in the structure of their genome are the
cause of cancer. That’s why “Scientists at the
Babraham Institute in Cambridge have found a
way to detect these changes, enhanceing cancer
diagnosis and aiding the use of targeted
treatments”.1
The breakthrough Has it been used?
Is it Cost-Effective?
It is. Compared to
other methods that
u s e D N A
sequencing, the HI-
C provides the same
data at a lower cost
thanks to lower
quality samples.
Yes, it was used to to
examine the genome of
cancer cells from six
p e o p l e w i t h b r a i n
tumours. They were
able to identify major
genome changes, often
with pinpoint accuracy.
The HI-C is a new
technique used to
detect chromosome
rearrangements and
a n d a l s o c o p y
number variation
that can determine
how a cell behaves
Opinon
I think it’s amazing that
they found a method
that brings a bit more
hope to cancer
patients and that
maybe its a bit more
affordable for the
people. However I
would like to know its
exactly assertiveness,
because you just can’t
give a prognostic
without knowing its
truthfulness.
Chromosomal Instability
“Genome instability is the main risk factor in the
development of tumours in humans”2 and it
seems that chromatine is involved in this process.
The Research
A group of experts found that when RNA joins with
the DNA because of a desease or by chance it
alters the structure of chromatine, causing gene
mutations during the transcription and transport of
RNA, producing damage to the DNA; but that
“Histone mutations separate R loops from genome
instability induction"
What are they doing now?
After finding this, now they say that it has to get
confirmed that is a process that does not occur on
healthy cells so that they could explore
therapheutic treatments.
Opinion
I think they found something really important and
relevant for future treatments, and if for some
reason the process also occur on healthy cells, I
hope they do not stop researching because as
they found this, they are getting to know more of
our genome and all the mutations that can
happen, so maybe one day they’ll find what is the
main reason of the genome instability.
Having a clear idea of human genome and all
the the process that are related to it, is what
scientist are triying to figure out right now
because the start of progress is the
knowledge.
The time that has passed since the discovery
of the structure of the DNA is relatively short
and all the advances that have occured since
then are incredible; Between these and of
which I consider the most important is the
gene therapy that was mentioned by
“Stanfield Roger's proposal in 1970 that "good
DNA" could be used to replace defective DNA
in people with genetic disorders”3; and since
then we have been in a constant search for
different techniques of recognition of genetic
abnormalities and thus find treatments
increasingly specific and effective to treat the
damage from its origin, helping all those who
are or will be at risk of disease.
INTRODUCTION

4. I
N
T
R
O
D
U
C
T
I
O
N
MAKING
PROGRESS
Gene Theraphy : “The first
patient to be treated with
gene therapy was a four year
old girl treated at the NIH
Clinical Center in 1990. She
had a congenital disease
called adenosine deaminase
(ADA) deficiency which
severely affects immunity
and the ability to fight
infections”3
AND SINCE THEN
Different tests have
been created to
detect genomic
abnormalities:
• Examination and
investigation of a
newborn
• Genetic test carrier
• Prenatal test
• Predictive and
presymptomatic
genetic test
• Genetic testing of
research

5. Nowadays we know that cancer cells due to changes in the
structure of their genome are the cause of cancer. That’s why
“Scientists at the Babraham Institute in Cambridge have found a
way to detect these changes, enhanceing cancer diagnosis and
aiding the use of targeted treatments”.1
CANCER

6. Chromosome rearrangements
When big sections of DNA
exchange or move between
chromosomes
Copy number variation
As its name says is the variation
in the numer of copies of
genetic material:
- There could be
none
- There could be
more of than the
required

7. The HI-C was used
to to examine the
genome of cancer
cells from six people
with brain tumours.
They were able to
identify the majority
of genome
changes.

8. TALKING
ABOUT COSTS
The HI-C is Cost-Effective
and they mentioned and
advantage that is beeing
able to provide copy number
information from the same
data.

9. OPINION
With more studies I
think the HI-C could
turn to be a very useful
tool to know what
exactly are the
problemes on the
genome of cacerous
cells, and after knowing
that making able to find
treatment that actually
works on patients.

10. Introduction"
They found that
changes in chromatin
can cause DNA
damage, causing all
the processes through
which DNA passes,
also to be altered.

11. DNA DAMAGE
DNA
RNA
links
By Chance or
Desease
Altered Chromatin
Gene
mutations
Involved in the
transcription
and transport
of RNA
cause

12. “We are trying to
understand human
genome instability to
identify elements, which,
in the future, might be
able to be explored as
targets of new anti-
tumour medicines,”2
- Andrés Aguilera-

13. Does anormaly chromatin plays a role on some
DNA mutations, especially those controlled by RNA
in healthy cells ?
YES
NO
?
HOPING
Start study
Histones as
therapeuDc target

14. OPINION
If they aswer the last
question with a no,
the posibilities that
await us to find new
therapeutic means
and look at its
functionality would be
endless.

15. MEDICAL
UTILITY

16. The HI-C tool could be
offered by doctors to
patients they think is
timely to do a test wich
shows changes in their
genome to do a
preventing diagnosis of
cancer and then talk
about possible
treatments.

17. Different treatments are being find and maybe
the new study of histones as treatment target
could be less invasive that the ones that are
being used right now.

18. Finally, there are still
unknown things about our
genome, but little by little
we are getting to know
more about it with the final
desire to discover new
things that give us access
to treatments and
knowledge about the
pathologies that occur in
the population.

19. BIBLIOGRAPHY
1.Babraham Institute, The. (2017, July 4).
Mapping genes could improve cancer
diagnosis. ScienceDaily. Retrieved July 22,
2017 from www.sciencedaily.com/releases/
2017/07/170704093912.htm.
2.University of Seville. (2017, June 30).
New elements responsible for instability in
chromosomes. ScienceDaily. Retrieved
July 29, 2017 from www.sciencedaily.com/
releases/2017/06/170630105026.htm
3.Mandal, D. A. (14 de January de 2014).
Gene Therapy History. (S. Robertson, Ed.)
News Medical Life Sciences . Taken from
http://www.news-medical.net/health/Gene-
Therapy-History.aspx

20. How much
information is actually
stored in our DNA?