POLYGENIC
DISORDERS
Salomé Rivera
Medicine student
Salome Rivera
Medicine Student
POLYGENIC
DISORDERS
BIBLIOGRAPHY
Medical University of Vienna. "Alzheimer's disease:
On the hunt for the biomarker signal for early
detection." ScienceDaily. ScienceDaily, 27 March
2017. From
www.sciencedaily.com/releases/2017/03/17032708
3239.htm
University of Manchester. "New role for immune
cells in preventing diabetes and hypertension."
ScienceDaily. ScienceDaily, 17 March 2017. From
www.sciencedaily.com/releases/2017/03/17031708
2510.htm
Martínez Sánchez, Lina Maria. Biología Molecular.
7 ed. Medellín: UPB. Fac.Medicina
MEDICAL
UTILITY
As main point, the fact of carrying
out studies on the genetic variants
responsible for the different
polygenic disorders allows
approaching a possible solution
that, unlike a treatment, gives way
to a preventive medicine.
Both studies give hope to the
patient and the medical staff, as it
is a clear example of progress.
INTRODUCTION
It´s a genetic disorder caused
by the action of more than one
gene, that is, the simultaneous
presence of several genes.
Likewise, they are going to be
influenced by the differents
environmental factors.
Are disorders that present a
high difficulty level of study
due to genetic variability of
each disease; for the same
reason, all of the methods used
for prevent genital
malformation have a difficult
application when we talk the
complex diseases and
polygenic.
ALZHEIMER´S
DISEASE AND OR
EARLY DETECTION
IMMUNE CELL FOR
THE DIABETES AND
HYPERTENSION
Alzheimer's
disease is
progressive
degenerative
diseases of the
brain,
What did they say?
There is a specific biomarker that
hasn't been found it. For this reason
the patient only start treatment once
the disease is clinically manifest
what is the objective?
Being able to diagnose the disease
long before having the clinical
manifestations and thus to avoid the
risk to develop it
Student’s opinion
Identifying the genes involved in the
development of this disease allows
patients to avoid the development of
each of them thanks to the
opportunity to find a cure.
Eosinophils are a variety of white blood
cells and one of the immune
system components responsible for
combating multicellular parasites and
certain infections in vertebrates
Student’s opinion
I consider that the
knowledge of the
functioning of some
cells as an effective
treatment for
diseases that are
difficult to prevent
gives the patients a
better quality of life.
what did they find?
They found that eosinophil levels were
severely decreased in PVATs in obese
individuals, so that the same tissue
function was affected, contributing to
type 2 diabetes and hypertension.
what is the objective?
PVAT from fat that lack eosinophils
could quickly be rescued by addition of
eosinophils,
IntroductionINTRODUCTION
It´s a genetic disorder caused
by the action of more than one
gene, that is, the simultaneous
presence of several genes.
Likewise, they are going to be
influenced by the differents
environmental factors.
Are disorders that present a
high difficulty level of study
due to genetic variability of
each disease; for the same
reason, all of the methods used
for prevent genital
malformation have a difficult
application when we talk the
complex diseases and
polygenic.
Are characterized by non-
Mendelian inheritance
The methods of the pairs affected in some
family members are used for detect the
genetic linkage by the interaction of
multiple genes, as long as the origin of the
chromosomes affected are identified
Alzheimer'sdisease:Onthehuntforthe
biomarkersignalforearlydetection
2017,March27
ALZHEIMER´S
DISEASE AND OR
EARLY DETECTION
Alzheimer's
disease is
progressive
degenerative
diseases of the
brain,
What did they say?
There is a specific biomarker that
hasn't been found it. For this reason
the patient only start treatment once
the disease is clinically manifest
what is the objective?
Being able to diagnose the disease
long before having the clinical
manifestations and thus to avoid the
risk to develop it
Student’s opinion
Identifying the genes involved in the
development of this disease allows
patients to avoid the development of
each of them thanks to the
opportunity to find a cure.
Alzheimer'sdisease:Onthehuntforthebiomarkersignalfor
earlydetection
Alzheimer's disease are
progressive degenerative of
the brain, which start up to
30 years before the onset of
symptoms
The disease is already lying
dormant in people who
appear completely healthy
from a clinical point of
view.
With the correct
measures, it is possible to
delay the clinical
symptoms of Alzheimer's
disease or to alleviate the
initial symptoms such as
forgetfulness
Alzheimer'sdisease:Onthehuntforthebiomarkersignalfor
earlydetection
Biomarkers are biological
characteristics in the body
that can indicate the
presence of a disease.
which can be used as a
reference point for
medical treatment
There are particular biological
signals for Alzheimer's in the
liquor
Tau proteins
play an important role
in material transport
within neurons
Alzheimer'sdisease:Onthehuntforthebiomarkersignalfor
earlydetection
In order to help Alzheimer's sufferers, the
EU project entitled "Memento," which is
being run by MedUni Vienna together
with the AIT (Austrian Institute of
Technology) and other international
partners, is concerned with developing
so-called electronic devices to help
sufferers in their everyday lives
GPS can be used to give verbal directions for finding
the way to the shops or back home again and there
are also similar devices for tracking people.
Student’s
opinion
I believe it is important to continue the
search for those specific biomarkers that
provide an approach to the possibility of
avoiding the development of Alzheimer's
and thus to help each patient with a
genetic predisposition
Newroleforimmunecellsinpreventing
diabetesandhypertension
2017,March17
IMMUNE CELL FOR
THE DIABETES AND
HYPERTENSION
Student’s opinion
I consider that the
knowledge of the
functioning of some
cells as an effective
treatment for
diseases that are
difficult to prevent
gives the patients a
better quality of life.
what did they find?
They found that eosinophil levels were
severely decreased in PVATs in obese
individuals, so that the same tissue
function was affected, contributing to
type 2 diabetes and hypertension.
what is the objective?
PVAT from fat that lack eosinophils
could quickly be rescued by addition of
eosinophils,
Eosinophils are a variety of white blood
cells and one of the immune
system components responsible for
combating multicellular parasites and
certain infections in vertebrates
Newroleforimmunecellsinpreventingdiabetesand
hypertension
Dr Sheena Cruickshank said: "This
type of immune cell is present in
many parts of the body and was once
thought to just act in parasitic
infections and allergies, but it's fast
becoming clear that they have a
significant effect on lots of aspects of
health and immunity."
Newroleforimmunecellsinpreventingdiabetesand
hypertension
Eosinophils are present in a layer of fat
tissue called the perivascular adipose
tissue (PVAT), which surrounds blood
vessels and helps to maintain normal
blood vessel function by reducing
artery contraction
It influenced the
release of nitric oxide
and a protein called
adiponectin, which
control healthy PVAT
function
Newroleforimmunecellsinpreventingdiabetesand
hypertension
These immune cells have been
traditionally overlooked but this study
shows for the first time that they have a
direct role to play in processes in the body
beyond the immune system.
Student’s
opinion
With this study we can observe the infinity of
knowledge that we still do not know about
many of the cells of our body, the infinity of
functions that each of them can have. Also the
fact of treating a disease with the same cells of
the body offers the possibility of treating these
diseases in a different way
Medicalutility
MEDICAL
UTILITY
As main point, the fact of carrying
out studies on the genetic variants
responsible for the different
polygenic disorders allows
approaching a possible solution
that, unlike a treatment, gives way
to a preventive medicine.
Both studies give hope to the
patient and the medical staff, as it
is a clear example of progress.
Medicalutility
With both studies provides the
possibility of reducing the morbidity
and mortality of each of these
diseases that affect a high
percentage of the population, as
well as better the quality of life and
decrease the costs of treatments
Medicalutility
Early diagnosis would be a great help to
combat Alzheimer's disease avoiding neuronal
deterioration, which is why they are looking
for an approximation to the specific
biomarker and a few years time, there could
potentially be a vaccination against this cause
of Alzheimer's.
Medicalutility
In addition to the use of body cells in the
treatment leading to an improvement, this
study shows that the eosinophils have a direct
role to play in processes in the body beyond
the immune system and this presents a new
area to investigate for a whole range of
illnesses
Bibliography • Medical University of Vienna. "Alzheimer's disease: On
the hunt for the biomarker signal for early detection."
ScienceDaily. ScienceDaily, 27 March 2017. From
www.sciencedaily.com/releases/2017/03/1703270832
39.htm
• University of Manchester. "New role for immune cells in
preventing diabetes and hypertension." ScienceDaily.
ScienceDaily, 17 March 2017. From
www.sciencedaily.com/releases/2017/03/17031708251
0.htm
• Martinez Sanchez, Lina Maria. Biología Molecular. 7
ed. Medellín: UPB. Fac.Medicina
POLYGENIC DISORDERS

POLYGENIC DISORDERS

  • 1.
  • 2.
    Salome Rivera Medicine Student POLYGENIC DISORDERS BIBLIOGRAPHY MedicalUniversity of Vienna. "Alzheimer's disease: On the hunt for the biomarker signal for early detection." ScienceDaily. ScienceDaily, 27 March 2017. From www.sciencedaily.com/releases/2017/03/17032708 3239.htm University of Manchester. "New role for immune cells in preventing diabetes and hypertension." ScienceDaily. ScienceDaily, 17 March 2017. From www.sciencedaily.com/releases/2017/03/17031708 2510.htm Martínez Sánchez, Lina Maria. Biología Molecular. 7 ed. Medellín: UPB. Fac.Medicina MEDICAL UTILITY As main point, the fact of carrying out studies on the genetic variants responsible for the different polygenic disorders allows approaching a possible solution that, unlike a treatment, gives way to a preventive medicine. Both studies give hope to the patient and the medical staff, as it is a clear example of progress.
  • 3.
    INTRODUCTION It´s a geneticdisorder caused by the action of more than one gene, that is, the simultaneous presence of several genes. Likewise, they are going to be influenced by the differents environmental factors. Are disorders that present a high difficulty level of study due to genetic variability of each disease; for the same reason, all of the methods used for prevent genital malformation have a difficult application when we talk the complex diseases and polygenic. ALZHEIMER´S DISEASE AND OR EARLY DETECTION IMMUNE CELL FOR THE DIABETES AND HYPERTENSION Alzheimer's disease is progressive degenerative diseases of the brain, What did they say? There is a specific biomarker that hasn't been found it. For this reason the patient only start treatment once the disease is clinically manifest what is the objective? Being able to diagnose the disease long before having the clinical manifestations and thus to avoid the risk to develop it Student’s opinion Identifying the genes involved in the development of this disease allows patients to avoid the development of each of them thanks to the opportunity to find a cure. Eosinophils are a variety of white blood cells and one of the immune system components responsible for combating multicellular parasites and certain infections in vertebrates Student’s opinion I consider that the knowledge of the functioning of some cells as an effective treatment for diseases that are difficult to prevent gives the patients a better quality of life. what did they find? They found that eosinophil levels were severely decreased in PVATs in obese individuals, so that the same tissue function was affected, contributing to type 2 diabetes and hypertension. what is the objective? PVAT from fat that lack eosinophils could quickly be rescued by addition of eosinophils,
  • 4.
    IntroductionINTRODUCTION It´s a geneticdisorder caused by the action of more than one gene, that is, the simultaneous presence of several genes. Likewise, they are going to be influenced by the differents environmental factors. Are disorders that present a high difficulty level of study due to genetic variability of each disease; for the same reason, all of the methods used for prevent genital malformation have a difficult application when we talk the complex diseases and polygenic. Are characterized by non- Mendelian inheritance The methods of the pairs affected in some family members are used for detect the genetic linkage by the interaction of multiple genes, as long as the origin of the chromosomes affected are identified
  • 5.
    Alzheimer'sdisease:Onthehuntforthe biomarkersignalforearlydetection 2017,March27 ALZHEIMER´S DISEASE AND OR EARLYDETECTION Alzheimer's disease is progressive degenerative diseases of the brain, What did they say? There is a specific biomarker that hasn't been found it. For this reason the patient only start treatment once the disease is clinically manifest what is the objective? Being able to diagnose the disease long before having the clinical manifestations and thus to avoid the risk to develop it Student’s opinion Identifying the genes involved in the development of this disease allows patients to avoid the development of each of them thanks to the opportunity to find a cure.
  • 6.
    Alzheimer'sdisease:Onthehuntforthebiomarkersignalfor earlydetection Alzheimer's disease are progressivedegenerative of the brain, which start up to 30 years before the onset of symptoms The disease is already lying dormant in people who appear completely healthy from a clinical point of view. With the correct measures, it is possible to delay the clinical symptoms of Alzheimer's disease or to alleviate the initial symptoms such as forgetfulness
  • 7.
    Alzheimer'sdisease:Onthehuntforthebiomarkersignalfor earlydetection Biomarkers are biological characteristicsin the body that can indicate the presence of a disease. which can be used as a reference point for medical treatment There are particular biological signals for Alzheimer's in the liquor Tau proteins play an important role in material transport within neurons
  • 8.
    Alzheimer'sdisease:Onthehuntforthebiomarkersignalfor earlydetection In order tohelp Alzheimer's sufferers, the EU project entitled "Memento," which is being run by MedUni Vienna together with the AIT (Austrian Institute of Technology) and other international partners, is concerned with developing so-called electronic devices to help sufferers in their everyday lives GPS can be used to give verbal directions for finding the way to the shops or back home again and there are also similar devices for tracking people.
  • 9.
    Student’s opinion I believe itis important to continue the search for those specific biomarkers that provide an approach to the possibility of avoiding the development of Alzheimer's and thus to help each patient with a genetic predisposition
  • 10.
    Newroleforimmunecellsinpreventing diabetesandhypertension 2017,March17 IMMUNE CELL FOR THEDIABETES AND HYPERTENSION Student’s opinion I consider that the knowledge of the functioning of some cells as an effective treatment for diseases that are difficult to prevent gives the patients a better quality of life. what did they find? They found that eosinophil levels were severely decreased in PVATs in obese individuals, so that the same tissue function was affected, contributing to type 2 diabetes and hypertension. what is the objective? PVAT from fat that lack eosinophils could quickly be rescued by addition of eosinophils, Eosinophils are a variety of white blood cells and one of the immune system components responsible for combating multicellular parasites and certain infections in vertebrates
  • 11.
    Newroleforimmunecellsinpreventingdiabetesand hypertension Dr Sheena Cruickshanksaid: "This type of immune cell is present in many parts of the body and was once thought to just act in parasitic infections and allergies, but it's fast becoming clear that they have a significant effect on lots of aspects of health and immunity."
  • 12.
    Newroleforimmunecellsinpreventingdiabetesand hypertension Eosinophils are presentin a layer of fat tissue called the perivascular adipose tissue (PVAT), which surrounds blood vessels and helps to maintain normal blood vessel function by reducing artery contraction It influenced the release of nitric oxide and a protein called adiponectin, which control healthy PVAT function
  • 13.
    Newroleforimmunecellsinpreventingdiabetesand hypertension These immune cellshave been traditionally overlooked but this study shows for the first time that they have a direct role to play in processes in the body beyond the immune system.
  • 14.
    Student’s opinion With this studywe can observe the infinity of knowledge that we still do not know about many of the cells of our body, the infinity of functions that each of them can have. Also the fact of treating a disease with the same cells of the body offers the possibility of treating these diseases in a different way
  • 15.
    Medicalutility MEDICAL UTILITY As main point,the fact of carrying out studies on the genetic variants responsible for the different polygenic disorders allows approaching a possible solution that, unlike a treatment, gives way to a preventive medicine. Both studies give hope to the patient and the medical staff, as it is a clear example of progress.
  • 16.
    Medicalutility With both studiesprovides the possibility of reducing the morbidity and mortality of each of these diseases that affect a high percentage of the population, as well as better the quality of life and decrease the costs of treatments
  • 17.
    Medicalutility Early diagnosis wouldbe a great help to combat Alzheimer's disease avoiding neuronal deterioration, which is why they are looking for an approximation to the specific biomarker and a few years time, there could potentially be a vaccination against this cause of Alzheimer's.
  • 18.
    Medicalutility In addition tothe use of body cells in the treatment leading to an improvement, this study shows that the eosinophils have a direct role to play in processes in the body beyond the immune system and this presents a new area to investigate for a whole range of illnesses
  • 19.
    Bibliography • MedicalUniversity of Vienna. "Alzheimer's disease: On the hunt for the biomarker signal for early detection." ScienceDaily. ScienceDaily, 27 March 2017. From www.sciencedaily.com/releases/2017/03/1703270832 39.htm • University of Manchester. "New role for immune cells in preventing diabetes and hypertension." ScienceDaily. ScienceDaily, 17 March 2017. From www.sciencedaily.com/releases/2017/03/17031708251 0.htm • Martinez Sanchez, Lina Maria. Biología Molecular. 7 ed. Medellín: UPB. Fac.Medicina