These two studies demonstrate the medical utility of genetics. The first identifies mutations contributing to a rare blood cancer, which could help clinicians design targeted treatments. The second discovers a gene controlling the circadian cycle, improving understanding of conditions like hormone disorders. Together they show how genetics research advances medicine by revealing disease causes and biological mechanisms.

2. Principles of Medical Genetics
José Daniel Villegas Mesa
Medicine Student

3. Medical utility
The medical genetic is very useful
because it can be used as a tool to
discover new rare diseases
associated to our genetic
information, it also allows to
predict how is going to pass the
genetic information from parents
to offspring; the medical genetic
has another advantage that is the
use as a very specified diagnostic
tool and that is really important
because it allows to choose the best
treatment for our patients.
Principles of medical genetics
By: José Daniel Villegas Mesa
Molecular Biology
Teacher : Lina Martínez
2015
Bibliography
MARTINEZ SÁNCHEZ, Lina
María… (y otros) Biología
molecular. 7. ed.
Medellín: UPB. Fac. de
Medicina, 2012 292 p.
Stanford Medicine News Center
(2015, August 10). Researchers
find mutations that contribute to
rare blood cancer
med.stanford.edu. Retrieved
August 10, 2015 from
https://med.stanford.edu/news/al
l-news/2015/08/researchers-find-
mutations-that-contribute-to-rare-
blood-cancer.html
Medicals news today (2015,
August 2). Scientists discover gene
that controls body clock. Retrieved
August 2,2015 from:
http://www.medicalnewstoday.co
m/articles/297594.php

4. Introduction
The medical genetic includes the
study of the variation in humans
heredity and his application to the
medical practice. The heredity
represents the transmitting of the
necessary information for the
synthesis and proteins regulation.
The primary structure of all
proteins its codified in the DNA,
which is in the chromosomes
inside the nucleus, the problems
that surround the big part of the
human genetic practice are in the
transmitting of heredity
characters.
Researchers find mutations that
contribute to rare blood cancer
Researchers at the Stanford
University School of
Medicine have identified a
group of mutations responsible
for many cases of a rare immune
cell cancer called cutaneous T-
cell lymphoma. Identifying the
mutations could tip off
clinicians to effective treatments
for the currently incurable
condition.
Student Observation:
This investigation reveals the
importance of genetics to find
new treatments or create them
to treat rare diseases, i think that
the medic genetic is awesosome
because sometimes it allows us
to find the specific cause of an
illness problem .
Scientist discover the gene
that controls body clock
The gene in question, zinc
finger homeobox 3 (Zfhx3),
is highly active in the
hypothalamus an area of the
brain that is responsible for
the production of several
important hormones.
Student observation:
This research is very
interesting, circadiang cicle
regulates the fluctuating
production of hormones
and knowing which gene
controls the body clock can
help us to modify it for
medical interventions

5. Introduction
The medical genetic includes the
study of the variation in humans
heredity and his application to the
medical practice. The heredity
represents the transmitting of the
necessary information for the
synthesis of proteins and his
regulation. The primary structure
of all proteins its codified in the
DNA, which is in the
chromosomes inside the nucleus,
the problems that surround the
big part of the human genetic
practice are in the transmitting of
heredity characters.
An example of those problems is
the trisomy of the chromosome
21, X fragile syndrome, klinefelter
syndrome , and some hereditary
diseases like hemophilia,
cholesterol, etc.

6. Researchers find mutations that
contribute to rare blood cancer
Researchers at the Stanford
University School of
Medicine have identified a
group of mutations responsible
for many cases of a rare immune
cell cancer called cutaneous T-
cell lymphoma. Identifying the
mutations could tip off
clinicians to effective treatments
for the currently incurable
condition.
Student Observation:
This investigation reveals the
importance of genetics to find
new treatments or create them
to treat rare diseases, i think that
the medic genetic is awesome
because sometimes it allows us
to find the specific cause of a
pathology.
Researchers at the Stanford
University school of
medicine. August 10/2015
“We can now design drug trials in
a smart, evidence-based way that is
specific to the patient,” said Youn
Kim, MD,

7. TNR2 CTLA4
This are cell receptors codified
by our genetic information.
When they are mutated
because of a damage in
our DNA, cells don´t
die.

8. Khavari and his team were able to recruit
91 patients to sequence specific regions of
the T cells’ DNA they suspected might be
modified in the cancer. From each patient,
they collected both cancerous and healthy
cells to compare their DNA. This way, they
were able to discount any inherent
mutations present in the patient before
cancer. They identified 170 genes with
mutations that could be related to the
cancer.
The researchers confirmed the
biological role of TNFR2 by
growing cells in the lab with
either the amino acid mutation
or the duplicate TNFR2 genes
and showing the cell-survival
pathway to be more active than
normal cells.

9. “Before we had this data, it was trial
and error — we were totally blind,”
said Kim. “We’re finally taking the
blindfolds off.”
University of California-San
Francisco melanoma specialist
Susana Ortiz-Urda, MD, PhD,
who was not involved with the
study, called the work
groundbreaking and said she was
impressed that the researchers were
able to gather so many patients to
identify the rare mutations.Kim, the Joanne and Peter Haas Jr. Professor in
Cutaneous Lymphoma Research who
directs Stanford’s Multidisciplinary Cutaneous
Lymphoma Program, plans to see if patients
with different mutations would respond to
different drug treatments., using the individual
patients’ cancer cell genetic sequences to design
combinations of drugs that would hit multiple
defective proteins to completely shut down the
cell-survival mechanism

10. Student´s observation
This investigation reveals the importance of genetics to
find new treatments or create them to treat rare diseases, i
think that the medic genetic is awesosome because
sometimes it allows us to find the specific cause of an
illness problem so we can use better our knowledge in
Science and Medicine to advance even more of what we
already know about Health, treatments, pharmacology,
heredity, risk factors and others.

11. Scientist discover the gene
that controls body clock
The gene in question, zinc
finger homeobox 3 (Zfhx3),
is highly active in the
hypothalamus an area of the
brain that is responsible for
the production of several
important hormones.
Student observation:
This research is very
interesting, circadiang cicle
regulates the fluctuating
production of hormones
and knowing which gene
controls body clock can help
us to modify it for medical
interventions
Lead researcher Dr. Pat
Nolan says. 2015,
August 2

12. The gene in question, zinc
finger homeobox 3 (Zfhx3)
This gene is highly active in the
hypothalamus an area of the
brain that is responsible for the
production of several important
hormones.

13. "We've known for some time that upsetting
the body clock isn't good for us but this
study takes us a lot closer to understanding
the mechanism of that clock," states study
co-author Dr. Michael Hastings
The body clock controls the timing of some
crucial biological processes like sleep,
hormone production and body temperature
regulation.

14. To learn about the workings of the body
clock, the researchers compared the genes of
mice with abnormally short body clocks with
a control group with normal circadian
rhythms. It was during this comparison that
the researchers discovered Zfhx3.
Faults in the Zfhx3 gene led to
miscommunication causing the biological
clocks of the mice to be much faster than
normal so it makes circadian cycle to work
in disorder.
Being unable to synchronize biological
rhythms within the brain has previously been
associated with some psychiatric and health
problems such as Schizophrenia. Hormones
disorders, fatigue and others uncomfortable
illnesses that make quality of life worst.

15. Student´s observation
This research is very interesting because circadian cycle
regulates the fluctuating production of hormones what makes
it so important to have adequate health conditions, so I think
this investigation is important because knowing which gene
controls body clock can help us to understand better how it
works and eventually modify it for medical interventions that
can help to improve patients health

16. Medical utility
The medical genetic is very useful
because it can be used as a tool to
discover new rare diseases
associated to our genetic
information, it also allows to
predict how is going to pass the
genetic information from parents
to offspring; the medical genetic
has another advantage that is the
use as a very specified diagnostic
tool and that is really important
because it allows to choose the best
treatment for our patients.

17. Medical Utility
These two researches are very useful, each one is different
but we can see in them a medical utility, the first one is a
big advance to treat a rare immune cell cancer called
cutaneous T-cell lymphoma and the second one is about a
gene that controls the circadian cycle what it´s interesting
because with that information we can understand better
how circadian cycle works and find a way to manipulate to
help those who have health problems because of circadian
cycle disorders such as hormone secretions.

18. The important of the first investigation resides in the possibility to
use all the knowledge they acquired about mutations in those
important receptors to treat cancer in a more effective way because
there weren´t an effective treatment for cutaneous T-cell lymphoma
so it´s a really important advance in medicine, also this researches
show us the importance of genetics principles because without
genetic studies this and others investigations couldn´t be finished

19. The second research is less important than the first one but it also
has an impact because they discovered a new gen involved in
circadian cycle control and as we know circadian cycle is important
to us for so many reasons , this investigation show us also how the
genetic can be used in so many different topics and his important
function in investigation developments such this ones

20. Bibliography
• Stanford Medicine News Center (2015, August 10). Researchers find mutations that contribute to rare
blood cancer med.stanford.edu. Retrieved August 10, 2015 from https://med.stanford.edu/news/all-
news/2015/08/researchers-find-mutations-that-contribute-to-rare-blood-cancer.html
• Medicals news today (2015, August 2). Scientists discover gene that controls body clock. Retrieved
August 2,2015 from: http://www.medicalnewstoday.com/articles/297594.php

21. The closer we are to nature, the
Better of we will be.