This document summarizes two scientific studies on chromosome defects and genetic diseases. The first study discovered a chromosome therapy technique to correct severe chromosome defects by replacing an abnormal ring chromosome with a normal duplicated chromosome in stem cells. This could help repair birth defects. The second study found that analyzing chromatin architecture, the organization of DNA and proteins in chromosomes, could help identify regulatory DNA anomalies and better diagnose genetic diseases, since DNA sequencing alone is insufficient. This discovery paves the way for improved understanding and diagnosis of many genetic conditions.

1. STUDY DISCOVERS CHROMOSOME THERAPY TO
CORRECT SEVERE CHROMOSOME DEFECT AND
IMPORTANT DISCOVERY FOR DIAGNOSIS OF
GENETIC DISEASES
MOLECULAR BIOLOGY
TEACHER: LINA MARTINEZ
ANA MARÍA GUTIÉRREZ
MEDICAL STUDENT
III SEMESTER
2014
PONTIFICIA BOLIVARIANA UNIVERSITY

2. FOLDING

3. FOLDING

4. INTRODUCTION
• All eukaryotes cells have a defined nucleus,
inside there in humans exist 46 pars of
chromosomes, whose are responsible of
the genetic information.
• The propose of genetic engineer is the
control and transfer of DNA to improve the
humans defect and other problems.
• Some problems who have had the genetic
engineer to grow up is the ethic
implications to comes with the
experimental process, and the
complication which may comes with this
practice

5. NEWS 1
“STUDY DISCOVERS
CHROMOSOME
THERAPY TO CORRECT
SEVERE CHROMOSOME
DEFECT”
Jan. 13, 2014

6. NEWS 1
In the future the
objective is to remove
the defective
chromosome and
replace it with a normal
chromosome
A normal chromosome is
linear, they are protected in
the end for the telomeres,
they functions are:
•Prevents degradation of
DNA ending
•Stop fusion with other
chromosomes
•Facilitates duplication
without losing the endings
The defect analyzed in
this study was the ring
chromosome, is rare
genetic defect.
with ring chromosomes,
the two ends of the
chromosome fuse
together, forming a
circle. This fusion can be
associated with large
terminal deletions.
All the people with ring
chromosome have
many birth problems
,the principal is the
short stature because of
the problems with cell
division

7. NEWS 1
Deletions can result in
disabling genetic
disorders, if the genes in
the deletion are
necessary for normal
cellular functions
Induced pluripotent stem
cells are a type
of pluripotent stem
cell that can be generated
directly from adult cells.
they can propagate
indefinitely, as well as
give rise to every other
cell type in the body
Results: Researchers
observed that, after
reprogramming, the ring
chromosome 17 that had
the deletion vanished
entirely and was replaced
by a duplicated copy of
the normal chromosome
17.

8. NEW 1
It is only possible to do
this chromosome
therapy for cells in
culture, not in human
beings.
It may be useful to use
this for tissue repair of
birth defects and other
abnormalities found in
individuals with
chromosomal defects as
techniques for
regenerative medicine are
developed in the future.
These reprogrammed
was did in ring
chromosome 13 too,
cells also lost the ring
chromosome, and
contained a duplicated
copy of the normal
chromosome 13.

9. OBSERVATION 1
Individuals
with
ring
chromosomes may display a
variety of birth defects, but nearly
all
persons
with
ring
chromosomes at least display
short stature due to problems
with cell division.
This study search with a genetic
therapy substitute an abnormal
chromosome for a corrected. The ring
chromosomes is a rare pathology , but
if that scientists gets replace for a
normal chromosome they could have
an idea of how to substitute
chromosomes for another pathologies
more
frequent
like
dawn
syndrome, Edwards syndrome, fragile
x syndrome ..., and avoid the
complications for those who comes
with these pathologies.

10. NEWS 2
“IMPORTANT
DISCOVERY FOR
DIAGNOSIS OF
GENETIC DISEASES”
Jan. 16, 2014

11. NEWS 2
The DNA molecules are in
all the cells in body into the
nucleus, they are around
the nucleosomes. The DNA
and nucleosomes form the
chromatin, which is the
main component of
chromosomes.
This work stand out that
the regulations of the
genes are associated with
three-dimensional
organization of the
chromatin
The chromatin architecture,
which varies according to
the cell type.

12. NEWS 2
The chromatin structure
have an important
function in the control of
gene activities
In actually to the studying
the causes of genetic
diseases usually the
laboratories use DNA
sequencing and the
analysis of gene
sequences.
This study found another
form to identify anomaly
in the DNA sequences that
control the genes. And
with the previous methods
this couldn’t be done.

13. NEWS 2
This discovery paves the way
for studying the mechanisms
that control the architecture of
chromatin should have a
significant impact on identifying
the causes and diagnosing
genetic diseases.
With this investigation the
scientific could have an
impact on a large number
of genetic diseases

14. OBSERVATION 2
The possibility to identify
regulatory DNA that
controls a given gene
facilitates the study of the
chromatin architecture
, that discovery will
generate a large impact on
the diagnosis of genetic
diseases in a embryos.
In the future when this
technique improve the
defects could be
diagnosed in the
pregnancy and solved to
evade the complication for
those who comes with a
genetic disease.

15. MEDICAL UTILITY
The diagnosis in embryo
stage, with the technique
based on analyzing
chromatin architecture,
gives a specific diagnostic
and reduces the medical
speculation.
Opportunity to
generate preventive
measures and
therapy treatment in
early stage

16. MEDICAL UTILITY
More probability to
knows what was the
causes who get the
genetic disease
The diagnosis is
faster and precise
Reduce the
complications and risk
for the baby in the
time to analyzing their
genes
The reprogramming
cellular could solve a
different types of
mutations, not only
deletion pathologies also
duplication, translocation
and inversion

17. MEDICAL UTILITY
Some pathologies affects
and puts in risk the life of
the baby, the idea in the
future is to fix the abnormal
chromosomes to solve this
problem and they could
have a normal life without
complications.
The reprogramming
open the opportunity
to remove variety of
genetic birth defects
Other use for the
reprogramming
different to the solve
the genetic disorder is
improve the quality of
transplants to reduce
rejection

18. MEDICAL UTILITY
Other use is help
normalize cellular
functions
suppressed
In conclusion this
technology could help
the society to increase
the quality of life, not
only in the humans ,but
also in animals and
plants improving their
capacities and qualities
This technology could
help to avoid the tumor
proliferation

19. BIBLIOGRAPHY
• http://books.google.com.co/books?id=ZAqRrB07idgC&pg=PA173&dq=etica+en+
manipulacion+genetica&hl=es419&sa=X&ei=9knsUpbqAYf7kQep14CoBw&ved=0CCoQ6AEwAA#v=onepage&
q=etica%20en%20manipulacion%20genetica&f=false
• http://sisbib.unmsm.edu.pe/bvrevistas/dermatologia/v09_sup1/biolog%C3%ADa%
20molecular%20.htm
• http://books.google.com.co/books?id=AGh8rK1MmOsC&pg=PA1270&dq=cromo
soma+de+anillo&hl=en&sa=X&ei=CbnnUq7FELjsAT0moKICg&ved=0CDUQ6AEwAg#v=onepage&q=cromosoma%20de%20anill
o&f=false
• MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 7 ed., Medellín, UPB, 2012,
pág 55.