Genetics, the pillars for new discoveries
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The document discusses two recent studies on genetics and genetic engineering. The first study developed a new type of restriction enzyme that recognizes longer DNA cutting sites, making it more specific. The second study identified a rare form of Congenital Adrenal Hyperplasia caused by an 11 beta hydroxilase deficiency linked to consanguineous marriages in some regions. Knowing the complete genetic profile of diseases can help develop improved treatments. A student comments that both studies will aid genetic research and modifying DNA to treat diseases.
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Genetic disorders can be caused by abnormalities in chromosomes or single genes. Chromosomal disorders occur when there are errors in chromosome number or structure during meiosis, leading to conditions like Down syndrome. Single gene disorders are caused by mutations in genes, and result in diseases like cystic fibrosis, sickle cell anemia, and Huntington's disease. Gene therapy aims to treat genetic disorders by inserting a normal gene into cells to replace the mutated version, using viral vectors to deliver the healthy gene. While some successes have been seen, challenges remain in developing safe and effective vector delivery systems.
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The document discusses gene therapy, including:
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2. Explaining the goal of gene therapy to introduce normal genes to compensate for defective genes.
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4. Discussing challenges in targeting specific cells/tissues and ensuring safe expression levels.
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Gene therapy involves inserting a normal gene into a patient's cells to treat a genetic disorder, such as cystic fibrosis. Scientists are trying to develop gene therapy for cystic fibrosis by putting copies of the normal gene into patients' cells. Some early tests on cystic fibrosis patients showed improvements, but these did not last. In the future, gene therapy may be used to prevent genetic diseases by modifying genes in sex or egg cells so all cells have the correct version. However, gene therapy of sex cells is currently illegal.
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Brett Neilan, a professor at the University of New South Wales, wrote a letter of recommendation for Gesika Jørgensen. The letter states that Gesika volunteered as a laboratory assistant in 2016, where she prepared bacteria samples, performed techniques like PCR and plasmid transformations, and assisted masters and PhD students. Gesika successfully inserted various plasmids into E. coli, performed plasmid extractions and gel electrophoresis, and helped with general lab tasks. Professor Neilan recommends Gesika without reservation for any lab position based on her maturity and recent experience.
Gene therapy
Gene therapy is an approach to treating diseases by modifying or correcting abnormal genes. It can involve replacing a mutated gene, inactivating an abnormal gene, or introducing a new gene. While the concept was introduced in the 1960s, the first approved human gene therapy trial took place in 1990. Since then, gene therapy has successfully treated various diseases like blindness, immune deficiencies, and Parkinson's disease symptoms. Viral and non-viral vectors are used to deliver therapeutic genes, with both methods having advantages and disadvantages. Ongoing research continues to expand the diseases that can be treated with this promising approach.
Gene therapy
Gene therapy is an experimental technique that uses viruses or nanotechnology to deliver working genes to replace defective genes that cause disease. It can be used to treat monogenic disorders caused by single gene defects as well as more complex disorders. There are three main types of gene therapy - germline gene therapy alters genes in egg and sperm cells and passes the changes to future generations; somatic gene therapy only alters genes in the patient's own body; and gene delivery methods like viruses must be used to safely introduce new genes. While gene therapy holds promise for treating many genetic diseases, there are also risks like immune reactions that require further research.
Gene therapy
"Gene Therapy" is a technique used to treat a disease or disorder by inducing the therapeutic gene into the vector, and the vector into the affected organism. So that, the therapeutic proteins expressed will vanish the affected proteins.
Genetic as medicine
Genetic disorders are caused by abnormalities in DNA, ranging from single gene mutations to full chromosome additions or deletions. Gene therapy aims to treat genetic disorders by inserting a normal gene to replace an abnormal one. Various methods can be used to deliver genes, including viral vectors like retroviruses. Some strategies include gene augmentation to restore lost function, targeted mutation correction, or inhibiting mutated gene expression. While offering hope for previously untreatable conditions, gene therapy carries risks like immune reactions and potential cancer formation that require further research.
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Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery. Gene therapy is used to correct defective genes in order to cure a disease or help your body better fight disease. Researchers are investigating several ways to do this, including: Replacing mutated genes. Some cells become diseased because certain genes work incorrectly or no longer work at all.
gene therapy
Gene therapy involves inserting genes into cells to treat disease. It was first tested in animals and then used in humans. The first approved gene therapy experiment occurred in 1990 and treated a child named Ashanti DeSilva for ADA-SCID. There are two main types of gene therapy - somatic cell gene therapy, which targets non-reproductive cells and is preferred since genetic changes are not passed to offspring, and germ line gene therapy, which targets reproductive cells. A common method is ex vivo gene therapy, which involves removing cells like bone marrow, modifying them in a lab, and returning them to the patient.
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Next-generation sequencing is providing new insights into inherited retinal dystrophies. The following key points are made:
1) Current molecular diagnosis can identify the disease mechanism in 50-60% of nonsyndromic retinal dystrophy patients. Multiple pathogenic variants may be present.
2) Analysis of the ABCA4 gene, associated with Stargardt disease, has uncovered deep intronic mutations and rare combinations of mutations in multiple genes.
3) Interpretation of sequencing results is challenging due to the discovery of variants of uncertain significance and complications with inheritance patterns. Retinal dystrophy is becoming a model for studying the molecular basis of rare genetic diseases.
Folding: NEWS Principles of Medical Genetics
News.
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Folding: Molecular Biology.
Universidad Pontificia Bolivariana.
Principles of Medical Genetics
This document summarizes several research articles on medical genetics. It discusses findings that thousands of genes can influence most diseases through tiny contributions, rather than a few major genes. It also describes a new method using RNA sequencing to diagnose genetic disorders by revealing errors in DNA execution and identifying candidate genes. The student believes further investigating gene networks and non-coding regions will be important for understanding rare conditions and developing treatments.
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Human Genome Engineering
The document discusses human genome engineering and the creation of designer babies. It begins by introducing the topic and some key terms like pre-implantation genetic diagnosis and germline engineering. It then covers current methods used like CRISPR/Cas9 gene editing and mitochondria replacement therapy. The document addresses both the benefits of reducing genetic diseases and longer lifespans but also the ethical considerations regarding safety and genetic enhancement. It concludes by discussing some recent successes in the field while noting more research is still needed to fully assess safety.
Advances in Gene Therapy: Eyal Grunebaum (The Hospital for Sick Children)
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The document discusses gene therapy, which involves introducing genes into cells to treat or cure diseases. It describes two main types of gene therapy - in vivo, which delivers genes directly into a patient's body, and ex vivo, which modifies cells in culture before transplanting them into patients. Viral and non-viral vectors are used to deliver therapeutic genes. The document outlines several applications of gene therapy, such as for genetic disorders, cancer, and autoimmune diseases. However, it notes that gene therapy faces challenges and high costs that limit widespread accessibility currently.
Genetic Mapping & its applications in different field of science
Genetic mapping is used to determine the location of genes on chromosomes and the distance between genes. It provides evidence that conditions passed down from parents to children are linked to specific genes. Genetic maps have been used to identify genes responsible for single-gene disorders and complex diseases. Applications of genetic mapping include medical diagnosis and treatment, agriculture, energy/environment, and forensics. While it provides advantages like disease risk assessment and personalized medicine, genetic mapping also has disadvantages such as expense and religious objections.
Angela Poster Draft.JB
Using next generation sequencing, researchers identified the genetic mutations causing Leber's congenital amaurosis (LCA) in a patient. They found the patient had two severe mutations in the RPGRIP1 gene, which is known to cause LCA. The mutations were inherited in an autosomal recessive pattern from the patient's mother and father, who each carried one mutated copy of the gene. Identifying the specific genetic cause of the patient's LCA provides insights that could help develop future therapies to treat this blindness-causing condition.
Recent advances in gene therapy
Gene therapy is an experimental technique that uses genes to treat disease by inserting genes into patients' cells instead of using drugs or surgery. Recent research has shown promising advances in gene therapy to treat various diseases. However, gene therapy still faces technical challenges such as safely delivering genes to target cells and tissues, potential immune responses, and difficulty treating complex multigenic disorders. While still experimental, gene therapy offers hope for treating currently incurable conditions.
Gene therapy (1)
Gene therapy involves inserting normal genes into patients to compensate for mutated genes that cause disease. There are four main approaches: gene replacement, gene correction, gene regulation, or selective mutation reversal. The first gene therapy treated a girl for severe combined immunodeficiency in 1990 by removing her white blood cells, inserting the missing gene, and returning the cells. While some early gene therapies showed promise, they also encountered problems like short-lived effects, immune responses, and in rare cases caused leukemia. Recent research aims to improve vectors and target delivery to overcome past issues. The first successful human gene therapy trials treated immunodeficiency and Parkinson's disease with no reported adverse events.
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This document discusses two scientific articles about cellular processes and potential applications to cancer treatment. The first article describes how a newly identified protease, Wss1, can chop down the protein components of DNA-protein crosslinks, allowing cells to replicate their genome. The second article discusses how DNA origami was used to test the effects of ephrin placement on the EphA2 receptor in cancer cells, finding it reduced invasiveness. The document concludes that further research using specialized techniques can improve understanding of disease pathophysiology and lead to potential cures in the future.
Gene therapy
Mrs. B.Gomathi, Associate Professor and Head, Dept of OBG Nursing, SUM Nursing College, Shiksha 'O' Anusandhan Deemed to be University, Bhubaneswar.
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Viral gene therapy uses viruses to deliver therapeutic genes to treat diseases. Viruses are effective at delivering genes to target cells. Viral gene therapy is being developed for inherited disorders, cancer, and cardiovascular diseases. It works by removing viral genes and replacing them with therapeutic genes. It has the potential to cure diseases like cancer, diabetes, and cystic fibrosis. Commonly used viral vectors are retroviruses and adenoviruses. Risks include damaging healthy cells and causing cancerous mutations. Advantages are its ability to cure many diseases and provide cost-effective treatments like curing type 1 diabetes without immunosuppressant drugs. It contributes to science by furthering understanding of viruses and their ability to infect cells.
Gene therapy
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Brett Neilan, a professor at the University of New South Wales, wrote a letter of recommendation for Gesika Jørgensen. The letter states that Gesika volunteered as a laboratory assistant in 2016, where she prepared bacteria samples, performed techniques like PCR and plasmid transformations, and assisted masters and PhD students. Gesika successfully inserted various plasmids into E. coli, performed plasmid extractions and gel electrophoresis, and helped with general lab tasks. Professor Neilan recommends Gesika without reservation for any lab position based on her maturity and recent experience.
Gene therapy
Gene therapy is an approach to treating diseases by modifying or correcting abnormal genes. It can involve replacing a mutated gene, inactivating an abnormal gene, or introducing a new gene. While the concept was introduced in the 1960s, the first approved human gene therapy trial took place in 1990. Since then, gene therapy has successfully treated various diseases like blindness, immune deficiencies, and Parkinson's disease symptoms. Viral and non-viral vectors are used to deliver therapeutic genes, with both methods having advantages and disadvantages. Ongoing research continues to expand the diseases that can be treated with this promising approach.
Gene therapy
Gene therapy is an experimental technique that uses viruses or nanotechnology to deliver working genes to replace defective genes that cause disease. It can be used to treat monogenic disorders caused by single gene defects as well as more complex disorders. There are three main types of gene therapy - germline gene therapy alters genes in egg and sperm cells and passes the changes to future generations; somatic gene therapy only alters genes in the patient's own body; and gene delivery methods like viruses must be used to safely introduce new genes. While gene therapy holds promise for treating many genetic diseases, there are also risks like immune reactions that require further research.
Gene therapy
"Gene Therapy" is a technique used to treat a disease or disorder by inducing the therapeutic gene into the vector, and the vector into the affected organism. So that, the therapeutic proteins expressed will vanish the affected proteins.
Genetic as medicine
Genetic disorders are caused by abnormalities in DNA, ranging from single gene mutations to full chromosome additions or deletions. Gene therapy aims to treat genetic disorders by inserting a normal gene to replace an abnormal one. Various methods can be used to deliver genes, including viral vectors like retroviruses. Some strategies include gene augmentation to restore lost function, targeted mutation correction, or inhibiting mutated gene expression. While offering hope for previously untreatable conditions, gene therapy carries risks like immune reactions and potential cancer formation that require further research.
petros tsipouras
This document discusses the potential for remote delivery of genetic counseling through telemedicine. It notes that demand for genetic counselors is outpacing supply. The document proposes building a comprehensive platform to enable remote genetic testing, counseling, and follow-up. Key components would include educational tools and counseling sessions delivered virtually. Over time, the goal is to develop more automated solutions using advanced algorithms. This could help address the shortage of genetic counselors and improve access to genetic testing and counseling services.
Applied virology
Gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery. Gene therapy is used to correct defective genes in order to cure a disease or help your body better fight disease. Researchers are investigating several ways to do this, including: Replacing mutated genes. Some cells become diseased because certain genes work incorrectly or no longer work at all.
gene therapy
Gene therapy involves inserting genes into cells to treat disease. It was first tested in animals and then used in humans. The first approved gene therapy experiment occurred in 1990 and treated a child named Ashanti DeSilva for ADA-SCID. There are two main types of gene therapy - somatic cell gene therapy, which targets non-reproductive cells and is preferred since genetic changes are not passed to offspring, and germ line gene therapy, which targets reproductive cells. A common method is ex vivo gene therapy, which involves removing cells like bone marrow, modifying them in a lab, and returning them to the patient.
The_current_status_of_molecular_diagnosis_of.4
Next-generation sequencing is providing new insights into inherited retinal dystrophies. The following key points are made:
1) Current molecular diagnosis can identify the disease mechanism in 50-60% of nonsyndromic retinal dystrophy patients. Multiple pathogenic variants may be present.
2) Analysis of the ABCA4 gene, associated with Stargardt disease, has uncovered deep intronic mutations and rare combinations of mutations in multiple genes.
3) Interpretation of sequencing results is challenging due to the discovery of variants of uncertain significance and complications with inheritance patterns. Retinal dystrophy is becoming a model for studying the molecular basis of rare genetic diseases.
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Folding: NEWS Principles of Medical Genetics
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Folding: Molecular Biology.
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This document summarizes several research articles on medical genetics. It discusses findings that thousands of genes can influence most diseases through tiny contributions, rather than a few major genes. It also describes a new method using RNA sequencing to diagnose genetic disorders by revealing errors in DNA execution and identifying candidate genes. The student believes further investigating gene networks and non-coding regions will be important for understanding rare conditions and developing treatments.
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Recombinant DNA technology allows scientists to isolate, clone, and manipulate specific genes. DNA from different species can be combined to produce new genetic combinations of value. Genes are cloned by inserting DNA fragments into vectors like plasmids, which are then inserted into host cells where they replicate numerous identical copies of the gene. This cloning process allows genes to be studied, sequenced, and modified in precise ways. Genetically modified organisms can then be produced by adding transgenes to organisms' genomes.
Diapositivas Pleglable
TrovaGene, Inc. obtained an exclusive license for novel mutations associated with prognosis and chemotherapy response in leukemia. Researchers discovered that a mutation in the U2 RNA splicing factor gene can cause neurodegeneration in mice by preventing proper splicing of pre-mRNA into mRNA. The SF3B1 splicing factor mutation was also found to be important for diagnosing and treating chronic lymphocytic leukemia patients. These discoveries provide new insights into disease diagnosis and treatment.
Plegable
This document discusses polygenic disorders and recent research findings related to them. A key finding is that thousands of genes can influence most common diseases, not just a few core genes as previously thought. Researchers now believe that virtually any gene can have some effect on a disease, either directly or indirectly. This omnigenic model could help expand the targets for new medicines to treat disease. The document also discusses a study that found nearly 50% of differences in children's social mobility are due to genetic factors, not just their family's socioeconomic status.
Plegable
The document discusses research into polygenic disorders and the influence of thousands of genes on most common diseases. Researchers previously thought that disease genes were clustered in specific molecular pathways, but they now believe that disease genes are spread uniformly across the genome and that virtually any gene can influence a disease. This omnigenic model of polygenic traits suggests that while a few core genes have direct effects, thousands of peripheral genes also have indirect effects. Understanding this could help expand treatment options and personalized medicine approaches. The document also discusses research finding that nearly 50% of differences in children's social mobility are due to genetic factors, not just their family's socioeconomic status.
Dna repair mechanism
DNA repair mechanisms based on new technologies and findings, to combat diseases caused by DNA damage
Genetic transcription
Pamphlet with the presentation of two news on Genetic Transcription:
- How 1,000 new genetic variants were discovered in blood groups
- New mechanisms of gene inactivation may prevent aging and cancer
Presentación3
This document discusses the central dogma of genetics, how DNA is replicated and transcribed into RNA which is then translated into protein. It also discusses how mutations in genes can cause cancer and be inherited. Scientists found that inherited susceptibility to bowel cancer was common among patients with a family history of the disease. Retroviruses can incorporate their RNA genome into host cell DNA using reverse transcriptase. Endogenous retroviruses make up around 5% of human DNA and may play a role in brain cell development and function. Understanding genetic mutations could help develop new cancer therapies like gene editing. Retroviruses may also be used in the future for gene therapy and cancer prevention.
REPARATION AND GENE EXPRESSION
The document discusses recent scientific findings related to DNA repair and gene expression regulation. It describes a study that linked epigenetic mechanisms controlling gene expression to bone and joint damage in ankylosing spondylitis. The study examined 75 patients over several years, finding that genes are not always expressed and require triggers to start expression processes. Maintaining high DNA methylation can also relate to non-expression of genes. Separately, it mentions the discovery of a "DNA ambulance" motor protein complex in yeast cells that repairs damaged DNA, though inaccurately and in a way that could lead to cancer. Researchers are working to better understand these DNA repair mechanisms and how genomic damage relates to disease progression and pathology.
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Genetics, the pillars for new discoveries
- 1. GENETICS, THE PILLARS FOR NEW DISCOVERIES DAVID GAVIRIA ORTIZ
- 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.
- 15. MEDICAL UTILITY
- 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.