2. Medical
Genetics
By
Manuela Carvajal Alzate
Teacher:
Lina María Martínez
University:
Pontificia Bolivariana
University
Medical utility
Genetics have an absolute
transcendental role in medicine,
because a big number of pathologies in
the human been are associated to a
strong genetic component, that, as
progress is made in this field, it proves
increasingly the influence of genes in
more quantity of disorders. Thus, is so
important the knowledge, the study of
the genetics in medicine, because this
gives the tools to understand the
genetics components that originate or
influence the apparition of many
sickness.
Bibliography
• New genetic test for predicting cancer
recurrence. (2017). ScienceDaily.
Retrieved 25 September 2017, from
https://www.sciencedaily.com/releases/201
7/09/170921095026.htm
• New genetic test for predicting cancer
recurrence. (2017). ScienceDaily.
Retrieved 25 September 2017, from
https://www.sciencedaily.com/releases/201
7/09/170921095026.htm
• Jorde, L., Carey, J., & Bamshad, M.
Genética Médica.
• MARTINEZ SÁNCHEZ, Lina María.
Biología molecular. 8. ed. Medellín: UPB.
Fac. of Medicine, 2015. 109-115 p
3. Introduction
It comprehends the study of the
variation and the human heritage,
also the use in the medicine. It
includes various studies that allows
to reach this end; like the mapping of
genes that causes sickness in specific
chromosomes, molecular mechanism
that explain how the genes causes all
this disorder, the heritage of sickness
in families, among others. A part of
all this utility in the diagnostic and
the treatment of pathologies that
affect the human been; all of this
because in the present days the
medicine has an accentuated
emphasis in the prevention, the
genetics play a fundamental role on
this preventive process.
New genetic test
for predicting
cancer recurrence
Discovery of a new genetic test that helps in
predicting metastasis in cancer; is based on the
detection of certain mitochondrial genes, which
can be tested in biopsies. Mitochondrial analysis
is more accurate than current methods on
predicting a patient's response to cancer
treatment. This advance is not only a test in
which the use of mitochondria as biomarkers is
discovered, but also as potential targets for drugs.
Personal comment
This type of advances, which give medicine tools
not only in terms of knowledge of the disease
mechanisms and the factors associated with its
recidivism, but also in possible attempts to treat
pathologies in which there is still uncertainty
about effectiveness of current therapeutic
alternatives
Personal comment
hanks to the information provided by genetics to
medicine when they complement each other, today
there are different types of tests at a molecular level
that aim to find genes associated with the expression
of various disorders, also the search for genomic
sequences that predispose to the expression of these
conditions.
Genome editing techniques were used to avoid
production of the OCT4 protein by blocking a gene.
This protein is activated in the first days of
development of the human embryo, which is
necessary for proper formation of the blastocyst,
(shown in the results of this study). OCT4 has
relevance in the biology of stem cells, which are
"pluripotent" (that is, they can become any other
type of cell).The result of this research project
provides a new understanding on the responsible
genes for a crucial change when groups of cells in
the very early embryo are organized and established
in different paths of development.
Genome editing reveals role
of gene important for human
embryo development
4. Introduction
It comprehends the study of the variation and the human heritage, also the use in the medicine. It includes
various studies that allows to reach this end; like the mapping of genes that causes sickness in specific
chromosomes, molecular mechanism that explain how the genes causes all this disorder, the heritage of
sickness in families, among others. A part of all this utility in the diagnostic and the treatment of
pathologies that affect the human been; all of this because in the present days the medicine has an
accentuated emphasis in the prevention, the genetics play a fundamental role on this preventive process.
The proteins are coded because the DNA, in particular, their primary structure. The majority part of the
DNA is at the level of the chromosomes, condensed inside the nucleus. Big part of the focus in the uses of
the genetics in the medicine, is concentrated on the study of the problems related to the transmission of
heritable characters.
The genetics, brings a base to understand the fundamental biological composition of the human been,
carrying though a better comprehension of the pathological process.
The scientific study of this, depends mainly of the analysis of the study of the mating between individuals.
5. New genetic test for predicting cancer
recurrence
Recent investigations have thrown the discovery of a
new genetic prove that helps on the prediction
regarding to the metastasis on the cancer.
The prove its based on the detection of certain
mitochondrial genes which can be checked on
biopsies.
On this investigation, it is said that the analysis on
the mitochondrial level, is more exactly that the
actual methods of predict the answer of a patient to
the treatment against cancer. The doctor Michael P
Lisant, coauthor of this study, affirms that the early
detection of the metastasis is transcendental on the
patient prognostic, because whit this information is
possible to act on an effective way.
6. New genetic test for predicting cancer
recurrence
Federica sotgia, Marco Fiorillo, Michael P. Lisanti., also mentioned in
their investigations, permanent uncertainty that exist because the
reappearance of the cancer or not, emphasizing the fact of that now
whit the utilization of this new prove, to know who will respond or not
to the treatment, is a tool that generate tranquility to the doctors, like
to the patients and their families.
The mitochondria are
described like the cells who
causes the secondary
recreation or also called
metastasis.
whereby
The mitochondrial genes are
more accurate in the
prediction of recidivism of
cancer.
ThatOther standard markers of
cell proliferation
commonly used.
Are
observedMore than 400
mitochondrial genes,
that participates on
this process
7. New genetic test for predicting cancer
recurrence
The team used in the survival analysis multiples curves of Kaplan- Meier
(that is a survival function of a certain population, that in medicine is
used to measure the fraction of patients still alive time ago after a
treatment) to extrapolate the correlation of the quantity of
mitochondrial genes and the metastasis in patients with cancer.
Some genes predicted up to 5 times more higher recurrence rates. A
biomarker particularly useful, HSPD1, is associated with the
mitochondrial biogenesis, that is, the process of creation of new ones.
The use of this mitochondrial biomarkers allows to the doctors to predict
with more precision that the patients will respond poorly to the
pharmacological treatment. The investigators are talking about
tamoxifen, that is used to prevent the sickness progress on a specific
patient’s population with breast cancer.
8. New genetic test for predicting cancer
recurrence
Thanks to this new prove that is giving the possibility to the
doctors of predicts when a treatment will fail, allows them to
take more positive options, that can be a closer monitoring of
the patient to an alternative treatment.
The saldford investigation team describe that cancerous cells
use the mitochondrial energy to resist to medicines like the
tamoxifen. Is estimated that two-third parts of the cancer
deaths are because the metastasis after the initial treatment.
This progress, is not only a prove where they discover the use
of mitochondria like biomarkers, but also like diana (no se que
es buscar) potentials of drugs. Because the new mitochondria’s
generation can be controlled by new therapies to prevent more
effectively the failure of the treatment.
9. New genetic test for predicting cancer
recurrence
Personal comment
This type of advances, which give medicine tools
not only in terms of knowledge of the mechanism
of the disease and the factors associated with its
recidivism, but also in possible attempts to treat
pathologies in which there is still uncertainty
about effectiveness current therapeutic
alternatives, such as cancer; demonstrate the
importance of correlation with other areas of
science, in this particular case, with genetics,
which provides the basis for understanding the
problems related to the transmission of hereditary
characters, which is increasingly being tested plus
its importance in the understanding of the
pathological process.
10. Genome editing reveals role of gene
important for human embryo development
For the execution of this project, genome editing techniques were used, in
order to avoid the production of the OCT4 protein by blocking a gene.
This protein is activated in the first days of development of the human
embryo, which is necessary for proper formation of the blastocyst,
(shown the results of this study). 7 days after fertilization. The result of
how fundamental the gene for the development of the embryo
In this research, Dr. Kathy Niakan of the Francis Crick Institute, who led
the project, says that in order to discover what the gene in the embryo
does, it is necessary to observe what events take place when it is not
present, since if it were known the key genes that embryos need to
develop successfully, IVF (in vitro fertilization) treatments could be
improved and understanding the causes of pregnancy failure; hence the
transcendental of this study, because it is the one that will give the
foundations
11. Genome editing reveals role of gene
important for human embryo development
During the realization of this investigative process, in the
beginning, it worked with mouse embryos and human
embryonic stem cells for a year, before starting to work on
human embryos. The method used to inactivate OCT4 was an
editing technique called CRISPR / Cas9, with the aim of
changing the DNA of 41 human embryos. After this, seven days
had to wait, at which time the embryonic development was
stopped and the embryos were analyzed.
In the research, the origin of the embryos used in the study is
clarified; these were donated by couples who had undergone
FIV treatment, with frozen embryos remaining in storage
and also had a research license
Another reason for the importance of OCT4 that
was mentioned in the study is its relevance in the
biology of stem cells, which are "pluripotent" (ie
they can become any other type of cell)
12. Genome editing reveals role of gene
important for human embryo development
Con el resultado de este proyecto de investigación está
proporcionando una nueva comprensión de los genes responsables
de un cambio crucial cuando los grupos de células en el embrión
muy temprano se organizan y se establecen en diferentes caminos
de desarrollo.
Dr. James Turner, co-author of the study of the Francis Crick
Institute, mentions during the research process that although
technology is available for the creation of pluripotent stem cells,
it is not yet understood exactly how they work, thus future
studies should be directed to elucidate what different genes cause
that cells to become and remain pluripotent. This will lead us to
the production of stem cells with greater reliability
With the result of this research is providing a new understanding
of the genes responsible for a crucial change when groups of cells
in the early embryo are organized and established in different
paths of development.
13. Genome editing reveals role of gene
important for human embryo development
That study will aid significantly aid to
the treatment of infertile couples as it
helps in identifying the factors that are
essential to ensure that human embryos
can be born and lead a healthy life
This research, moreover, represents a
relevant step in the understanding of
human embryonic development. New
treatments against developmental
disorders and could also help to
understand diseases of adults such as
diabetes that can originate during the
early stage of life
14. Genome editing reveals role of gene
important for human embryo development
Genetic research in humans is the starting point of
medicine in the approach of new alternatives for the
resolution of existing crossroads regarding some process
that is still enigmatic, as the case, a treatment that is not
currently resolved or of a pathology of which its
mechanism of action is not known. The genetic studies
give the starting elements to guide all the technologies
that are currently in the search of alternatives that allow
to solve that which threatens the health and life of the
human being.
15. Medical utility
Genetics has an absolutely transcendental role in medicine since a large
number of pathologies in humans are associated with a strong genetic
component; that, as advances are made in this field, the influence of genes in
increasing amounts of disorders is increasingly demonstrated. Hence it is of
vital importance knowledge the study of genetics in medicine, as it gives tools
to understand the genetic components that originate or influence the
appearance of various diseases
16. Thanks to the information provided by genetics to medicine
when they complement each other, today there are different
types of tests at a molecular level that aims to find genes
associated with the expression of various disorders, also the
search for sequences genomic predisposing to the expression
of these; which is very important, because at present, it is
intended a medical practice that not only focuses on the
treatment of the disease, but on the prevention of it
17. Through genetic studies and
information that contribute to
various pathological mechanisms,
advances can be made in treatment,
through the identification of new
targets for the action of drugs. There
are also attempts at treatment
directly related to genetic
manipulation, such as gene therapy
18. With the completion of the human genome project
(in which the sequence of chemical base pairs that
make up the DNA was determined, the genes of the
human genome were identified and mapped from a
physical and functional point of view). doors of
different advances in medicine based on the new
knowledge of the different genes that make up the
genome; such as the development of new diagnostic
tests, adaptation to a treatment, diagnosis of
diseases associated with the genome, among others.
19. Bibliography
• New genetic test for predicting cancer recurrence. (2017).
ScienceDaily. Retrieved 25 September 2017, from
https://www.sciencedaily.com/releases/2017/09/170921095026.htm
• New genetic test for predicting cancer recurrence. (2017).
ScienceDaily. Retrieved 25 September 2017, from
https://www.sciencedaily.com/releases/2017/09/170921095026.htm
• Jorde, L., Carey, J., & Bamshad, M. Genética Médica.
• MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 8. ed.
Medellín: UPB. Fac. of Medicine, 2015. 109-115 p
20. Science, for me, gives a partial
explanation for life. In so far as it goes,
it is based on fact, experience and
experiment.
