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Genetics, the pillars for new discoveries

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GENETICS, THE PILLARS FOR NEW DISCOVERIES DAVID GAVIRIA ORTIZ
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Page 1: Genetics, the pillars for new discoveries

GENETICS, THE PILLARS FOR NEW DISCOVERIESDAVID GAVIRIA ORTIZ

Page 2: Genetics, the pillars for new discoveries
Page 3: Genetics, the pillars for new discoveries
Page 4: Genetics, the pillars for new discoveries

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.

Page 5: Genetics, the pillars for new discoveries

NEW METHOD OF GENETIC ENGINEERING INDISPENSABLE TOOL IN BIOTECHNOLOGICAL APPLICATIONS

2017, February 9th.

Page 6: Genetics, the pillars for new discoveries

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.

Page 7: Genetics, the pillars for new discoveries

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.

Page 8: Genetics, the pillars for new discoveries

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.

Page 9: Genetics, the pillars for new discoveries

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.

Page 10: Genetics, the pillars for new discoveries

RESEARCHERS DECODE RARE FORM OF ADRENAL GLAND GENETIC DISORDER LINKED TO GENDER AMBIGUITY

2017, January 30th.

Page 11: Genetics, the pillars for new discoveries

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.

Page 12: Genetics, the pillars for new discoveries

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.

Page 13: Genetics, the pillars for new discoveries

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.

Page 14: Genetics, the pillars for new discoveries

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.

Page 15: Genetics, the pillars for new discoveries

MEDICAL UTILITY

Page 16: Genetics, the pillars for new discoveries

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.

Page 17: Genetics, the pillars for new discoveries

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.

Page 18: Genetics, the pillars for new discoveries

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.

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BIBLIOGRAPHY1. 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.

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