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GENETICS, THE PILLARS
FOR NEW DISCOVERIES
DAVID GAVIRIA ORTIZ
INTRODUCTION
• The cut sites for regular restriction
enzymes usually span four to eight
base pairs, being really short, it
makes it less specific since these
sites can appear multiple times in
the DNA strand.
• In diseases caused by recessive
genes, both parents ought to carry
at least one deficient gene for a
child to come up with the disease.
NEW METHOD OF GENETIC
ENGINEERING INDISPENSABLE
TOOL IN BIOTECHNOLOGICAL
APPLICATIONS
2017, February 9th.
NEW METHOD OF GENETIC ENGINEERING
INDISPENSABLE TOOL IN BIOTECHNOLOGICAL
APPLICATIONS
Professor Huimin Zhao and student
Benham Enghiad developed a new type
of restrction enzyme capable of
recognising much longer cutting sites,
usually one per DNA strand, being more
specific and leaving no room for
obstacles at cutting.
For normally cutting sites appear more
tan once in the DNA since they’re made
of very few base pairs, being really short.
NEW METHOD OF GENETIC ENGINEERING
INDISPENSABLE TOOL IN BIOTECHNOLOGICAL
APPLICATIONS
The authors stated that ther
technology unifies all known
restriction enzymes, into a
system consisting of one
protein and tow DNA guides.
This is able to target sites no
available restrictin enzymes
can.
NEW METHOD OF GENETIC ENGINEERING
INDISPENSABLE TOOL IN BIOTECHNOLOGICAL
APPLICATIONS
These two reasearchers created
enzymes that produce a sort of arbitrary
sticky end, making easier the
assemblence of large DNA molecules.
They’re planning to use these, when
exploring for diagnositcs of genetic
diseases and pathogens.
NEW METHOD OF GENETIC ENGINEERING
INDISPENSABLE TOOL IN BIOTECHNOLOGICAL
APPLICATIONS
STUDENT’S OPINION
I think they did a really
valuable apport to science,
they just got things easier for a
lot of researchers by
shortening the paths they have
to go through in a regular
investigation with DNA strands,
whatever the reason is.
RESEARCHERS DECODE RARE
FORM OF ADRENAL GLAND
GENETIC DISORDER LINKED
TO GENDER AMBIGUITY
2017, January 30th.
RESEARCHERS DECODE RARE FORM OF ADRENAL
GLAND GENETIC DISORDER LINKED TO GENDER
AMBIGUITY
Congenital Adrenal Hyperplasia is a disease that
causes masculinization of females due to a lack of
cortisol and an excesive adrenal male hormone
secretion, leading to misunderstandings when
babies are born.
The most common cause of this disease is a 21 beta
hydroxilase deficiency, but that’s not the only one,
what they found here is an 11 beta hydroxilase
deficiency.
RESEARCHERS DECODE RARE FORM OF ADRENAL
GLAND GENETIC DISORDER LINKED TO GENDER
AMBIGUITY
The researchers propose that
this enzyme deficiency is
caused mainly becacuse of
consaguineous marriages
such as wtih first cousins, and
since this is a common thing
in countries like Turkey, North
Africa and the Middle East,
this form of disease is so
present over there.
RESEARCHERS DECODE RARE FORM OF ADRENAL
GLAND GENETIC DISORDER LINKED TO GENDER
AMBIGUITY
Knowing the truthful cause of the disease helps us when it comes to determine a proper
treatment for it, it’s supposed to be done inside the womb by suppresing the secretion of
androgen adrenal secretion when the genitals are being formed. It must be acknowledged as
well the this deficiency takes place in chromosome 8, opposed to its counterpart, the 21 beta
hydroxilase deficiency, which takes place in chromose 6.
RESEARCHERS DECODE RARE FORM OF ADRENAL
GLAND GENETIC DISORDER LINKED TO GENDER
AMBIGUITY
STUDENT’S OPINION
I think that knowing the complete
genetic profile a genetic disease is
key to develop a proper treatment,
therefore, these scientist have
done an splendind job, because it
can change the lives of hundreds
of girls in the Middle East for the
better.
MEDICAL
UTILITY
MEDICAL UTILITY
About the new enzymes, their work
makes easiear the study of DNA,
simply because it’s more specific, so
when it comes to look for
polymorphisms we can get a much
more reliable result. Identifying
polymorphisms is key to determine
different causes of a disease.
MEDICAL UTILITY
It also gives us a wider field when it
comes to recombination, then it is
possible to create new drugs with new
molecules, or it also change the
mechanisms of action of some bactirias
or viruses, since recombinating their
DNA can change the damage they may
produce.
MEDICAL UTILITY
Speaking about the CAH variant, the fact that
we know the complete genetic profile of this
disease gives us information for the creation of
new treatments, the sooner the treatment
begins, the better, that’s the reason why the
treatment usually begins in the womb. It’s
really useful to differenciate between diseases
of the same symptoms, and it absolutely helps
when it comes to in vitro modifications.
BIBLIOGRAPHY
1. The Mount Sinai Hospital / Mount Sinai School of
Medicine. (2017, January 30). Researchers decode rare
form of adrenal gland genetic disorder linked to gender
ambiguity. ScienceDaily. Retrieved March 26, 2017 from
www.sciencedaily.com/releases/
2017/01/170130224758.htm
2. Carl R. Woese Institute for Genomic Biology, University of
Illinois at Urbana-Champaign. (2017, February 9). New
method of genetic engineering indispensable tool in
biotechnological applications. ScienceDaily. Retrieved
March 26, 2017 from www.sciencedaily.com/releases/
2017/02/170209163841.htm
3. Martínez Sánchez, Lina María. Biología Molecular. 8 Ed.
Medellín: UPB. Fac. Medicina.
Genetics, the pillars for new discoveries

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Genetics, the pillars for new discoveries

  • 1. GENETICS, THE PILLARS FOR NEW DISCOVERIES DAVID GAVIRIA ORTIZ
  • 2.
  • 3.
  • 4. INTRODUCTION • The cut sites for regular restriction enzymes usually span four to eight base pairs, being really short, it makes it less specific since these sites can appear multiple times in the DNA strand. • In diseases caused by recessive genes, both parents ought to carry at least one deficient gene for a child to come up with the disease.
  • 5. NEW METHOD OF GENETIC ENGINEERING INDISPENSABLE TOOL IN BIOTECHNOLOGICAL APPLICATIONS 2017, February 9th.
  • 6. NEW METHOD OF GENETIC ENGINEERING INDISPENSABLE TOOL IN BIOTECHNOLOGICAL APPLICATIONS Professor Huimin Zhao and student Benham Enghiad developed a new type of restrction enzyme capable of recognising much longer cutting sites, usually one per DNA strand, being more specific and leaving no room for obstacles at cutting. For normally cutting sites appear more tan once in the DNA since they’re made of very few base pairs, being really short.
  • 7. NEW METHOD OF GENETIC ENGINEERING INDISPENSABLE TOOL IN BIOTECHNOLOGICAL APPLICATIONS The authors stated that ther technology unifies all known restriction enzymes, into a system consisting of one protein and tow DNA guides. This is able to target sites no available restrictin enzymes can.
  • 8. NEW METHOD OF GENETIC ENGINEERING INDISPENSABLE TOOL IN BIOTECHNOLOGICAL APPLICATIONS These two reasearchers created enzymes that produce a sort of arbitrary sticky end, making easier the assemblence of large DNA molecules. They’re planning to use these, when exploring for diagnositcs of genetic diseases and pathogens.
  • 9. NEW METHOD OF GENETIC ENGINEERING INDISPENSABLE TOOL IN BIOTECHNOLOGICAL APPLICATIONS STUDENT’S OPINION I think they did a really valuable apport to science, they just got things easier for a lot of researchers by shortening the paths they have to go through in a regular investigation with DNA strands, whatever the reason is.
  • 10. RESEARCHERS DECODE RARE FORM OF ADRENAL GLAND GENETIC DISORDER LINKED TO GENDER AMBIGUITY 2017, January 30th.
  • 11. RESEARCHERS DECODE RARE FORM OF ADRENAL GLAND GENETIC DISORDER LINKED TO GENDER AMBIGUITY Congenital Adrenal Hyperplasia is a disease that causes masculinization of females due to a lack of cortisol and an excesive adrenal male hormone secretion, leading to misunderstandings when babies are born. The most common cause of this disease is a 21 beta hydroxilase deficiency, but that’s not the only one, what they found here is an 11 beta hydroxilase deficiency.
  • 12. RESEARCHERS DECODE RARE FORM OF ADRENAL GLAND GENETIC DISORDER LINKED TO GENDER AMBIGUITY The researchers propose that this enzyme deficiency is caused mainly becacuse of consaguineous marriages such as wtih first cousins, and since this is a common thing in countries like Turkey, North Africa and the Middle East, this form of disease is so present over there.
  • 13. RESEARCHERS DECODE RARE FORM OF ADRENAL GLAND GENETIC DISORDER LINKED TO GENDER AMBIGUITY Knowing the truthful cause of the disease helps us when it comes to determine a proper treatment for it, it’s supposed to be done inside the womb by suppresing the secretion of androgen adrenal secretion when the genitals are being formed. It must be acknowledged as well the this deficiency takes place in chromosome 8, opposed to its counterpart, the 21 beta hydroxilase deficiency, which takes place in chromose 6.
  • 14. RESEARCHERS DECODE RARE FORM OF ADRENAL GLAND GENETIC DISORDER LINKED TO GENDER AMBIGUITY STUDENT’S OPINION I think that knowing the complete genetic profile a genetic disease is key to develop a proper treatment, therefore, these scientist have done an splendind job, because it can change the lives of hundreds of girls in the Middle East for the better.
  • 16. MEDICAL UTILITY About the new enzymes, their work makes easiear the study of DNA, simply because it’s more specific, so when it comes to look for polymorphisms we can get a much more reliable result. Identifying polymorphisms is key to determine different causes of a disease.
  • 17. MEDICAL UTILITY It also gives us a wider field when it comes to recombination, then it is possible to create new drugs with new molecules, or it also change the mechanisms of action of some bactirias or viruses, since recombinating their DNA can change the damage they may produce.
  • 18. MEDICAL UTILITY Speaking about the CAH variant, the fact that we know the complete genetic profile of this disease gives us information for the creation of new treatments, the sooner the treatment begins, the better, that’s the reason why the treatment usually begins in the womb. It’s really useful to differenciate between diseases of the same symptoms, and it absolutely helps when it comes to in vitro modifications.
  • 19. BIBLIOGRAPHY 1. The Mount Sinai Hospital / Mount Sinai School of Medicine. (2017, January 30). Researchers decode rare form of adrenal gland genetic disorder linked to gender ambiguity. ScienceDaily. Retrieved March 26, 2017 from www.sciencedaily.com/releases/ 2017/01/170130224758.htm 2. Carl R. Woese Institute for Genomic Biology, University of Illinois at Urbana-Champaign. (2017, February 9). New method of genetic engineering indispensable tool in biotechnological applications. ScienceDaily. Retrieved March 26, 2017 from www.sciencedaily.com/releases/ 2017/02/170209163841.htm 3. Martínez Sánchez, Lina María. Biología Molecular. 8 Ed. Medellín: UPB. Fac. Medicina.