Medical genetics is a branch of human genetics confined to studying structure and function of the genetic material in health and disease states of human beings.

1. María Camila Calle Estrada
Medical student
Medical genetics

2. Principles of Medical
Genetics and pcr
By: María Camila Calle Estrada
Molecular Biology
Teacher: Lina Martínez
BIBLIOGRAPHYMEDICAL UTILITY
Harvard Medical School (2017,
January 26). New gene-delivery
therapy restores partial hearing,
balance in deaf mice. Science daily.
www.sciencedaily.com/releases/201
7/01/170126120504.htm
Massachusetts General Hospital
(2017, January 19).Digital assay of
circulating tumor cells may improve
diagnosis, monitoring of liver cancer.
Science daily.
www.sciencedaily.com/releases/201
7/01/170119143403.htm
Medical genetics
is getting a great
appreciation now
days, because of
all the medical utility
it has. Is highly recognized in the
prenatal diseases diagnostic and
allow scientist and doctors to treat
this condition and avoid future
complications. In the develop of
transgenic species, transcription of
genes that could help many
organic disorders and even in the
reparation of DNA .
PCR amplifies small sequences de
DNA and allows generate
millions of copies of
genetic material
that will be used in
the medical genetics

3. PCR INCREASES THE
ABILITY TO DIAGNOSE
EARLY LIVER CANCER
INTRODUCTION
Medical genetics is a branch of
human genetics confined to studying
structure and function of the genetic
material in health and disease
states of human beings. Some of the
most frecuently treated topics
are genetic disorders, their modes of
inheritance, diagnostic techniques.
PCR is used in medical genetics.
Due to this technique offers
sensitivity because from small
amounts of genetic material can be
detected target sequences in a
sample.
Massachusetts General
Hospital Cancer Center,
have discovered a digital
PCR that allows much more
precise measurement of the quantity of a
given nucleic acid segment in a sample of
circulation tumor cells (CTC).
How did they make it?
They identified 10 specific RNA transcripts
expressed in Hepatocellular carcinoma cells
(HCC) but not in blood complements and
digital PCR revealed significantly higher
levels of the HCC-associated RNA transcripts.
Student's opinion:
Thousands of people die because of the liver
cancer. In my opinion, being able to identify
early-stage of HCC, increases the likelihood
of successful treatment and help the pacient
to respond in a better way to the treatment
and avoid possible future
complications.
New gene-delivery
therapy restores partial
hearing, balance in deaf
mice
Scientist from Harvard Medical School, have
managed to restore partial hearing and
balance in mice , using hair cells, (the
delicate sensors in the inner ear that capture
sound and head movement). The result was
that mice that would normally be completely
deaf then could hear the equivalent of a
loud conversation.
How did they make it?
They grew regular adeno-associated virus
(AAV) inside cells. Those cells are naturally
bud off exosomes. The membrane wrapping
around the virus is coated with proteins that
bind to cell receptors, they discovered exo-
AAV, binds more easily to the surfaces of hair
cells and penetrates them more efficiently.
Student's opinion:
Being able to create a new technique that
improves the hearing condition in mice could
enhance the hearing condition and also the
balance principally in people who
has dizziness, and vertigo.

4. Introduction
Medical genetics is based on the DNA,
specifically in the study of chromosomes,
proteins, genes, enzymes and the other
components of the genetic material.
PCR, is a laboratory technique used to
make multiple copies of a segment of
DNA. PCR is very precise and can be used
to amplify, or copy, a specific DNA target
from a mixture of DNA molecules

5. Digital assay of circulating tumor cells may
improve diagnosis, monitoring of liver cancer.
Massachusetts General Hospital.
(2017, January 19)

6. Digital assay of circulating tumor
cells may improve diagnosis,
monitoring of liver cancer
Assay capable detected a
single cancer cell within a
background of the tens of
billions of cells that comprise
whole blood.

7. Digital assay of circulating tumor cells
may improve diagnosis, monitoring of
liver cancer
PCR is a technique for generating many copies of a specific nucleic acid segment of DNA,
digital PCR allows much more precise measurement of the quantity of a given nucleic acid
segment in a sample of circulating tumor cells.

8. Digital assay of circulating tumor
cells may improve diagnosis,
monitoring of liver cancer
Digital PCR analysis revealed significantly higher
levels of the hepatocellular carcinoma (HCC)
associated RNA transcripts in blood samples from
patients with HCC than from those with other
cancers, with chronic liver disease or healthy controls

9. Digital assay of circulating tumor cells may
improve diagnosis, monitoring of liver cancer.
(Student's opinion)
There are so many tests that have tried to
create new techniques to diagnose earlier
hepatic diseases, such as Hepatocellular
carcinoma, some of them are expensive and
does not have trustworthy results. Is for that
reason I think that use PCR to make this kind
of diagnostics is really a great step for
science. Is a good help for doctors in the
medical practice and the most important is
that people with those diseases could have a
better forecast of the pathology, receiving a
treatment early and improving their life
condition.

10. New gene-delivery therapy restores partial
hearing, balance in deaf mice.
Harvard Medical School.
(2017, January 26)

11. New gene-delivery therapy restores partial
hearing, balance in deaf mice.
The new model used hair cells, those are a
delicate sensors in the inner ear that capture
sound and head movement and convert
them to neural signals for hearing and
balance.

12. New gene-delivery therapy restores partial
hearing, balance in deaf mice.
Common adeno-associated
virus (AVV): gene carrier into
the inner ear, the team used a
form of the virus wrapped in
protective bubbles called
exosomes.

13. New gene-delivery therapy restores partial
hearing, balance in deaf mice.
Mice enhanced the audition and
also the balance, compared with
their untreated
counterparts, showing far less
head tossing or running in circles,
both markers of instability or
disorientation

14. New gene-delivery therapy restores partial
hearing, balance in deaf mice.
(Student's opinion)
The human genomic have allowed the
discovering of genes that codificate many
pathologies and are the substrate to create
new techniques for diagnose or treatment.
The fact that scientist found the genes
implicated in deaf could determinate where
is exactly the mistake and try to heal it, and
make deaf people the possibility to hear and
get a better life.

15. Medical utility

16. Medical utility
Prevention and treatment of genetic
diseases and congenital defects in general
every manifestation of disease has some
genetic contribution and in most of the
common chronic diseases (Diabetes,
hypertension, mental illness, cancer), there is
a predisposition determined by multiple
genes, which influences its occurrence and
degree of severity.

17. Medical utility
Early and accurate diagnosis is an
essential service in the management of
genetic diseases, because it depends on
preventive and therapeutic measures
that doctors will do later.

18. Medical utility
Genetic counseling involves explaining to
the patient or, if he is a child, to his parents,
the characteristics of the disease that
affects him, its prognosis and management,
and its mode of
heritage.
In cases of individuals with genetic risks in
offspring, the estimate quantification of risk
in future children is based on the diagnosis
and detailed analysis Of family history.

19. Bibliography
Massachusetts General Hospital. (2017, January 19). Digital assay of circulating tumor
cells may improve diagnosis, monitoring of liver cancer. Retrieved March 10, 2017 from
www.sciencedaily.com/releases/2017/01/170119143403.htm
Harvard Medical School. ( 2017, January 26). New gene-delivery therapy restores
partial hearing, balance in deaf mice. Retrieved March 10 2017 from
www.sciencedaily.com/releases/2017/01/170126120504.htm
Add a little bit of body text

20. Thanks.