The document discusses advances in medical genetics including the development of an early blood test for Alzheimer's disease and a new system called CAPTURE for characterizing regulatory DNA sequences. The early Alzheimer's test detects signs of the disease before symptoms appear by examining RNA transcripts in leukocytes. CAPTURE allows researchers to isolate and study proteins and DNA interactions that control gene regulation, offering insights into diseases. These advances offer opportunities to better understand disease causes and influence conditions through earlier detection and treatment.

1. MEDICAL GENETICS
Sara Alejandra Rodas Cardona
Med Student

2. MEDICAL
GENETICS
By: Sara A. Rodas
Cardona.
Molecular Biology
Teacher: Lina Martinez
BIBLIOGRAPHY
MEDICAL
UTILITY
The advances of medical
genetics at present,
offers a new opportunity
to influence diseases by
knowing their causes and
related factors.
The fact that today it´s
possible to access to an
Alzheimer's early test
and other different tests
that identify different
types of diseases, will
impact on the way the
medical staff acts and
develops, allowing better
diagnoses and prognoses.
• ScienceDaily. (2017, August 24). Toward
an early Alzheimer's test. ScienceDaily.
Available in:
https://www.sciencedaily.com/releases
/2017/08/170824141204.htm
• ScienceDaily. (2017, August 24).
Scientists characterize regulatory DNA
sequences responsible for human
diseases. ScienceDaily. Available in:
https://www.sciencedaily.com/releases
/2017/08/170824141210.htm
• Revistanefrologia.com. (2011).
Genética y enfermedad. Concepto de
genética médica.
Revistanefrologia.com. Available in:
http://www.revistanefrologia.com/es-
publicacion-suplementosextra-articulo-
genetica-enfermedad-concepto-
genetica-medica-X2013757511002585

3. CHARACTERIZING OF
REGULATORY DNA
SEQUENCES
EARLY
ALZHEIMER'S TEST
INTRODUCTION
Medical genetics is defined
as a medical -sanitary
specialty that applies the
knowledge of genetics to
medical practice, occupying
diseases of genetic origin ,
including hereditary and
malformative pathologies of
the human species
The medical genetics
provides the fundamental
concepts of genetics to
basic life processes, joins
medical practice and is
recognized as the specialty
in most developed countries.
.
Paul Coleman, an
Alzheimer's researcher at
the NDRC, said that one of
the greatest difficulties
finding an effective
treatment for Alzheimer's is
the enormous lag between
the disease's inception and
the appearance of clinical
symptoms. They created an
early blood test that detect
the disease even before the
onset of symptoms
The method accomplishes
this feat by examining
leucocytes. Here, segments
of RNA known as transcripts
hold vital clues regarding
health.
A g ro u p o f s c i e n t i s t s f ro m
t h e C R I h ave d eve l o p e d a n
i n n ova t ive s y s t e m t o
i d e n t i f y a n d c h a ra c t e r i ze
t h e m o l e c u l a r c o m p o n e n t s
t h a t c o n t ro l t h e a c t iv i t i e s
o f reg u l a t o r y D N A
s e q u e n c e s i n t h e h u m a n
ge n o m e.
Th ey c a l l e d i t C A P T U R E .
C A P T U R E a l l ow s t o i s o l a t e
a n d a n a l y ze t h e e n t i re s e t
o f f a c t o rs t h a t reg u l a t e t h e
D N A o f fe r i n g m a n y
p o s s i b i l i t i e s t o s t u d y h ow
d i f fe re n t p ro t e i n s c o n t ro l
ge n o m e f u n c t i o n i n c a n c e r
a n d s t e m c e l l s a n d a l s o
g iv i n g t h e o p p o r t u n i t y t o
f i n d n ew d r u g t a rge t s

4. INTRODUCTION
INTRODUCTION
Medical genetics is defined as a
medical-sanitary specialty that
applies the knowledge of genetics to
medical practice, occupying diseases
of genetic origin, including
hereditary and malformative
pathologies of the human species.
The medical genetics provides the
fundamental concepts of genetics to
basic life processes, joins medical
practice and is recognized as the
specialty in most developed
countries.
.
Campo de acción
Individuos y familias
afectadas por
enfermedades genéticas
Aspectos diagnósticos
Pronóstico
Prevención
Tratamiento
Aspectos éticos, sociales
y legales de la genética

5. TOWARD AN EARLY ALZHEIMER'S
TEST
EARLY ALZHEIMER'S
TEST
Paul Coleman, an Alzheimer's
researcher at the NDRC, said that
one of the greatest difficulties
finding an effective treatment for
Alzheimer's is the enormous lag
between the disease's inception and
the appearance of clinical symptoms.
They created an early blood test that
detect the disease even before the
onset of symptoms
The method accomplishes this feat
by examining leucocytes. Here,
segments of RNA known as
transcripts hold vital clues regarding
health.
When the first manifestations of
Alzheimer's appear, the Alzheimer's
has been ravaging the brain for
decades.
If the disease could be identified
much earlier, close to its origin,
there is hope that perhaps it could be
slowed or even halted in its tracks.
THE HIDDEN THREAT
AUGUST 24, 2017

6. TOWARD AN EARLY ALZHEIMER'S TEST
Alzheimer's produces changes in the brain, which can
stimulate genes relating to conditions like stress and
inflammation. Expression of these stimulated genes
appears in the blood in the form of specific RNA
transcripts that can be combined into a biomarker.
WHAT IS ABOUT?

7. TOWARD AN EARLY
ALZHEIMER'S TEST
WHAT DID THEY DO?
The authors identify the RNA transcripts in
blood using cDNA array and reverse
transcriptase polymerase chain reaction (RT-
PCR).
Results of the two methods were in close
agreement and were further shown to be
replicable across multiple sample populations.
This allowed the researchers to design a
consistent suite of transcripts that could be
used to diagnose the disease.
The study uses 177 blood and 27
post-mortem brain samples into
several groups
It can accurately identify those
carrying two copies of the APOE4
gene, known to be a severe risk
factor for developing Alzheimer's.
Transcript screening was also
used to identify those at risk for
future cognitive impairment

8. TOWARD AN
EARLY
ALZHEIMER'S TEST
The results demonstrate that analysis of
transcripts in blood samples provide an accurate
and minimally invasive strategy for diagnosis of
AD and early detection of AD risk.
One or more of the many existing drugs for
Alzheimer's which have failed in clinical trials,
may actually succeed in slowing or arresting
Alzheimer's if they can be delivered early enough
in the disease process.
SO WHAT?

9. O
P
I
N
I
O
N
I think it’s an incredible opportunity that medical
diagnosis methods are becoming less invasive
and less risky. Molecular biology is undoubtedly
the protagonist of current scientific advances and
their clinical application.
Alzheimer's has always been a great enigma in
medicine producing a huge disability, so being
able to influence it from its origin represents a
huge importance.
However, it is important to think: is this test
accessible to the entire population? Surely it’s
not.

10. SCIENTISTS CHARACTERIZE REGULATORY DNA SEQUENCES
RESPONSIBLE FOR HUMAN DISEASES
A group of scientists from the CRI
have developed an innovative system
to identify and characterize the
molecular components that control the
activities of regulatory DNA
sequences in the human genome.
They called it CAPTURE.
AUGUST 24, 2017

11. SCIENTISTS CHARACTERIZE
REGULATORY DNA
SEQUENCES RESPONSIBLE
FOR HUMAN DISEASES
The genome has a 98% of noncoding regions, that control when
and where the protein-coding genes are activated.
These noncoding regions has a huge importance in human
genetics and cancer genomic studies as potential drivers for
human diseases such as cancer.
A better understanding of these
regulatory regions and how they control,
is necessary to uncover how diseases
develop and to find new treatments.
CAPTURE, the new system, provides an
approach to simultaneously isolate
genomic sequence-associated proteins
as well as their RNA and DNA
interactions.

12. SCIENTISTS CHARACTERIZE REGULATORY DNA
SEQUENCES RESPONSIBLE FOR HUMAN DISEASES
CAPTURE allows to isolate and
analyze the entire set of factors
that regulate the DNA offering
many possibilities to study how
different proteins control
genome function in cancer and
stem cells and also giving the
opportunity to find new drug
targets
Works by using guide RNAs to
direct a deactivated version of
Cas9 (dCas9) to the DNA elements
that researchers want to study.
Then, dCas9 – and another
proteins, RNA, and DNA sequences
associated with dCas9's position
on the chromosomes, can be
isolated and studied.

13. SCIENTISTS CHARACTERIZE
REGULATORY DNA
SEQUENCES RESPONSIBLE
FOR HUMAN DISEASES
Using CAPTURE, the scientist successfully identified many
known and new human telomere-associated proteins as a proof
of principle.
Next, researchers uncovered new mechanisms regulating
aberrant beta-globin gene expression in human blood cells.
Altered expression of beta-globin
genes is associated with inherited
hemoglobin disorders, such as sickle
cell anemia.
This new tool will advance the
understanding of the human genome
and genetic variations in a variety of
diseases

14. O
P
I
N
I
O
N
It’s important to find out that molecular
components are so important in the
development of the cell cycle and function.
In the past, was unknown that regulatory
and non coding regions are that important,
and today, is known that maybe, a huge part
of genetical disorders are related to them.
I think that the importance lays in the
opportunity to give a better treatment and
life quality to our patients, but I also think
that the new challenge is to find a treatment
that everybody can pay

15. MEDICAL UTILITY
MEDICAL UTILITY
The advances of
medical genetics at
present, offers a
new opportunity to
influence diseases
by knowing their
causes and related
factors.
The fact that today it´s possible to
access to an Alzheimer's early test and
other different tests that identify
different types of diseases, will impact
on the way the medical staff acts and
develops, allowing better diagnoses
and prognoses.

16. MEDICAL UTILITY
An early Alzheimer’s test provides hope to
every single person in the world.
Our brain makes us what we are, and being
able to diagnose our patients and treat them
before the damage is done.
This will also have an impact on the high
global costs caused by these highly disabling
diseases.

17. MEDICAL UTILITY
Every day science is closer to find the causes
of hundreds of disabling and unknown
diseases in the world.
Advances in molecular biology and its
techniques are impacting on the way we see
and treat different pathologies in the medical
field.

18. MEDICAL UTILITY
Our genome determines us. Knowing and
having the opportunity to improve the
treatments that we previously thought fit, will
provide better prognoses and solutions to
patients.
If we know today that, for example, our non
coding regions in the genome are the target of
treatment, what we’ll be able to know after?

19. BIBLIOGRAPHY
• ScienceDaily. (2017, August 24). Toward an early Alzheimer's test.
ScienceDaily. Available in:
https://www.sciencedaily.com/releases/2017/08/170824141204.htm
• ScienceDaily. (2017, August 24). Scientists characterize regulatory DNA
sequences responsible for human diseases. ScienceDaily. Available in:
https://www.sciencedaily.com/releases/2017/08/170824141210.htm
• Revistanefrologia.com. (2011). Genética y enfermedad. Concepto de
genética médica. Revistanefrologia.com. Available in:
http://www.revistanefrologia.com/es-publicacion-suplementosextra-
articulo-genetica-enfermedad-concepto-genetica-medica-
X2013757511002585

20. "Within one linear centimeter of your
lower colon there lives and works more
bacteria (about 100 billion) than all
humans who have ever been born.
Yet, many people continue to assert
that it is we who are in charge of the
world."
- Neil deGrasse Tyson