The work focuses on cystic fibrosis as a monogenic disease and autism as a monogenic disease.

1. MONOGENIC
AND
POLYGENIC
DESEASES
JULIANA VARGAS
ARBOLEDA
MOLECULAR BIOLOGY

4. The genes have an effect
on the phenotypes, which
may have a dominant,
recessive or x-linked
inheritance.

5. Queen's University Belfast
Science news
March 27, 2017

6. Is a fatal autosomal
recessive disease that
presents with a primary
defect of the epithelial
glands, producing
accumulation of viscous
mucus that obstructs the
intestine, bile ducts and
pancreas and accumulates
in airways.
CYSTIC FIBROSIS

7. SING AND
SYMPTOME

8. Fat-soluble vitamins
can 'soak up' the
lipocalins before they
have a chance to bind
the antibiotics,
increasing the chances
that antibiotics will
reach the bacteria.

9. STUDENT´S OBSERVATION
I think this research is very important
because it helps those affected with cystic
fibrosis feel a greater improvement with the
treatment. By increasing the effect of
antibiotics with vitamins, also increases the
hope and quality of life of these patients.

10. Autism Speaks
Science news
March 6, 2017

11. Is a developmental disability
that can cause significant
language and speech
difficulties.
Autism damages a person's
ability to communicate and
relate to others. Also, it is
associated with repetitive
routines and behaviors.

12. SING AND
SYMPTOME
SIGN AND
SYMPTOME

13. The MSSNG database
allows researchers to
analyze the entire 3
billion DNA base pairs
that make up each
person's genome.
The precise
coordination of genetic
activity appears to be
particularly crucial to
brain development and
function.

14. STUDENT´S OBSERVATION
I believe that this research is very interesting and
important for the investigation of autism, since in
addition to releasing more genes involved in the
disorder, it was also discovered that some genes
are related to other clinical manifestations of autistic
patients, which explains that the disease is present
differently in each person.

15. MEDICAL
UTILITY

16. MEDICAL
UTILITY
These investigations could
benefit the patients who suffer
these hereditary pathologies
and facilitate the doctors
treatment plan for each case.

17. MEDICAL
UTILITY
Both investigations seek to
give affected patients an
alternative to prevent or treat
their disease to provide a
better quality of life.

18. MEDICAL
UTILITY
The genetic mapping that was
done to know more about autism,
allows doctors and scientists to
find the gene that is affected and
to anticipate the alterations that
can occur, to find a therapy
against these disorders.

19. BIBLIOGRAPHY
Autism Speaks. "World's largest autism genome database
shines new light on many 'autisms': Latest study identifies 18
new autism-linked genes, deepening understanding of autism's
broad spectrum." ScienceDaily. ScienceDaily, 6 March 2017.
<www.sciencedaily.com/releases/2017/03/170306114217.htm>.
Queen's University Belfast. "Vitamins could help treat cystic
fibrosis, research finds." ScienceDaily. ScienceDaily, 27 March
2017.
<www.sciencedaily.com/releases/2017/03/170327100742.htm>.