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Print Posted on 12/04/2018 in Fertility Treatment Options

Preimplantation Genetic Screening (PGS)& Preimplantation Genetic Diagnosis (PGD) “Blended” with CRISPR Technique Can Edit the Unique Embryo Code & Design Babies

Preimplantation Genetic Screening (PGS)& Preimplantation Genetic Diagnosis (PGD)  “Blended” with CRISPR Technique Can Edit the Unique Embryo Code & Design Babies

Designer Babies: The Unique Embryo Code Can Be Edited in the Laboratory. Breakthrough in Preimplantation genetic screening (PGS) and Preimplantation Genetic Diagnosis (PGD). Envisioned or not, thought or not but Designer Babies, Even Boutique Babies Are Coming Soon… Preimplantation Genetic Diagnosis, Preimplantation Genetic Screening, Smart and Sophisticated Genome Editing Technologies – all these options blended together make it possible… Everything that seemed impossible becomes possible… Being absolutely unbelievable, Designer Babies Will Be Real in the nearest future!

Surely you have already envisioned in your mind the first ‘DATE’ with your small bundle of joy as the moment of cordial connection. But have you ever envisioned how your future baby may look like? Have you ever mentally ‘glanced’ at your future baby’s gorgeous eyes? Have you ever thought that those intriguing gorgeously–shaped dark–golden curls fall around your future baby–girl’s back and shoulders? The gorgeous baby–girl with the cascade of dark–golden curls down to her waist, so intriguingly curled, so glittering, so gorgeous, so tempting… And you are captured by the divine beauty of her curls… Your girl is basically so attractive, that even you wonder if she is for real. She is impeccably charming. Or if you have a tiny dude, have you ever envisioned him with so impeccably charming? With so sparkling dark eyes? With so cute tiny curls? Dreaming? Wondering if that possible? Be sure, everything is possible! The Advanced and Sophisticated Options Will Turn Your Dream into Reality! But have you ever imagined that it would be possible to “DESIGN” your Tiny One? The Boutique Version of your small bundle who will be absolutely ideal? Surely, NOPE… But what are your thoughts if I say that you can do that? 

We have started with your tiny one’s desirable appearance features. You have already envisioned the ideal appearance in the utmost details… What is about your future baby’s intelligence? You do want your baby to have the exquisite cognitive and verbal skills, unique imagination, wonderful memory and so on, don’t you? Intelligence is the way to success, and you know that. So, will you choose the advanced intelligence?

The most important thing – ideal health. The health is of vital importance, am I right? No one wants even to glance at the sufferings of the little one. Especially if the little one suffers from serious disease because it hurts too much. And if you may choose the option to have that tiny embryo–lady… or embryo–dude with the strong immune system, with the minimum health–problems, surely you will choose her or him prior to the others, don’t you?

Wondering what I am talking about? I’m talking about the UNIQUE or even BOUTIQUE babies who are created in the laboratory by the specialists according to your uniquely chosen ‘design’.

(1) Who are the DESIGNER BABIES?

Currently, reproductive medicine faces the exciting challenge of implementing the new gene–editing technologies in the IVF treatment option. These technologies allow the doctors to EDIT the embryonal genetic code. Coding and decoding genetic information are two advanced options which are used to create the exclusive, healthy, perfect quality embryos. These uniquely designed embryos are called the ‘DESIGNER BABIES’.

In other words, the designer babies are the babies that are exclusively created through a genetic screening process or genetic recoding process. Genetic modification is a process, in which a certain technology [or a set of technologies] is used to modify the genetic code [or genetic makeup] of the cells. It also involves transferring the genes to create opportunities for the genetic makeup. And in some situations, the advanced gene therapy techniques are used to create the desired type of characteristics in the baby.

This is possible ONLY through In Vitro Fertilization treatment option. As the embryos are created for you in the laboratory. 

(2) What is In Vitro Fertilization (IVF)? 

In Vitro Fertilization (IVF) is a multistage INVASIVE fertility treatment that is designed for those cases when non–invasive treatments fail. It involves four main stages: (1) the woman takes oral and injectable medications to stimulate the ovaries to produce follicles which are the fluid–filled cysts in the ovaries that contain the oocytes; (2) the removal of oocytes from the woman’s ovaries by an ultrasound–guided procedure performed under anesthesia (invasive surgery); (3) the placement of the oocytes and sperm together in the laboratory to allow fertilization to occur or ICSI method is used for fertilization, and; (4) the transfer of embryos (fertilized oocytes) into the woman’s uterus.

(3) Is it real to have the DESIGNER BABY?

You may wonder whether it is real to have the DESIGNER BABY, or not. You may nervously envision in the mind the ideal embryo–baby. Or considering that it is just the gossips about boutique–embryo–babies. The babies that are absolutely perfect both morphologically and esthetically. And you will be amused to hear ‘YES’. Yes, it is possible to have the designer baby [if you undergo the IVF treatment cycle] as every embryo has its unique embryo code. And that unique embryo code can be edited in the lab through several advanced techniques.

Designer babies are created from an embryo selected by preimplantation genetic diagnosis (PGD). The primary aim of creating designer babies is to avoid the heritable diseases coded by mutations in DNA. Currently, using the genome–editing techniques, the embryologists can design the babies through editing the genetic imperfections.

(4) In which situations the doctor may strongly recommend you the gene–editing technologies? 

Embryos are prone to chromosomal abnormalities. It may even happen that almost all your embryos would be mosaic. Or their DNA would be fragmented. Furthermore, gene–editing technologies offer an alternative for women to carry a fetus unaffected by hereditary diseases.

In such adverse situations, gene–editing technologies are strongly recommended. And what if you just want that tiny embryo, which is uniquely designed for you to be perfect? What if it is just your wish to have the ideal baby? Are there any restrictions or limitations for editing the embryo’s genetic code?

(5) Is it possible to apply for the DESIGNER BABY if you don’t have strong medical recommendations?

At present, the Reproductive Specialists can ‘DESIGN’ the baby for you if you will apply and sign the papers. Nowadays the boutique embryo–baby (or the boutique embryo–babies) are pre–designed via transparent discussion with the doctors [establishing INCLUSIVE and EXCLUSIVE CRITERIA. And after that created from an embryo (or embryos) selected by preimplantation genetic diagnosis. And preimplantation genetic diagnosis (PGD) itself includes invasive and non–invasive options.

(6) How can the Reproductive Specialists ‘DESIGN’ the baby for you?

Preimplantation genetic diagnosis (PGD), following in vitro fertilization (IVF) treatment cycles, preimplantation embryo biopsy, and genetic analysis of a single cell or small numbers of cells are the basic gene–editing technologies that allow to ‘show’ the embryo’s genetic code and to edit it. All these methods the reproductive specialists can perform in the lab to design the embryo–baby for you. But these methods are not the only ones. Nowadays, the reproductive specialists also use an effective CRISPR technique for modifying DNA structures.

(7) What are the PGD and PGS?

Preimplantation genetic screening (PGS) and Preimplantation Genetic Diagnosis (PGD) are currently applied to evaluate the presence of aneuploidies in embryos germline editing. Basically, these two techniques are biopsies. The biopsy is the invasive method for genome editing.

Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS) for monogenic diseases and/or numerical/structural chromosomal abnormalities are the tools for embryo testing aimed at identifying non–affected and/or euploid embryos in a cohort produced during an IVF treatment cycle.

The main goal of PGD and PGS, which are the biopsy of one or more cells from a preimplantation embryo followed by the ploidy analysis of these cells, is to define whether an embryo is affected by a monogenic disease and/or chromosomal impairments, thus preventing the implantation of a symptomatic fetus and/or limiting the risks underlying the transfer of chromosomally abnormal embryos. And as these techniques are biopsies, they should be performed with the utter accuracy because they can harm the embryo. In other words, during PGD or PGS the reproductive specialists must not to significantly harm the embryo during the biopsy and preserve its viability and reproductive potential.

(8) What is the CRISPR technique for modifying DNA structures?

More advanced and UNIQUE gene–editing technology is called ‘CRISPR’ [Clustered Regularly Interspaced Short Palindromic Repeats]. It allows researchers to alter DNA sequences and modify gene function. CRISPR is the set of molecular scissors (an enzyme that cuts DNA), that cut out the defective genes. Just tag the CRISPR molecule with a bit of RNA (a slim sliver of genetic material that sticks to DNA) to guide it, and it can cut out and ‘EDIT’ or ‘rewrite’ any snippet of DNA its wielders would like to target.

To edit the DNA sequence by using CRISPR technology, the specialists should identify those affected genes in the DNA sequences, that should be cut out. This technology works as a ‘tiny pair of molecular scissors’ that cut out the unnecessary DNA strand. Once the affected DNA is cut, the cell will repair the cut by joining the DNA strands’ ends (with some DNA at the cut side being lost so that a deletion is made), or by using any available DNA strands to complete the gap.

But the goal is to edit the DNA structure or to complete the DNA structure with the necessary genes. Therefore, the reproductive specialists can inject between the DNA sequences (in the place of the cut) the new gene they want to insert. If a new gene is injected at the same time as sending in the artificial guide, the cell will often use this new DNA sequence to repair the cut.

In other words, CRISPR allows the doctors to edit the DNA sequences (to find, cut and then paste the new gene). Its many potential applications include identifying, validating and correcting the genetic defects, cutting the defected place in the DNA strands, treating and preventing the spread of diseases.

Creation of the designer babies is the hotly debated theme. IVF combined with CRISPR interventions could become a boutique option for creating the elite embryo–babies. These babies won’t suffer from genetic and other diseases. They will have a strong immune system. They will have an incapable attractive appearance, and even their intelligence will be beyond the imagination. But what will be with those babies who are naturally conceived? Will they find their place in such a PERFECT WORLD? Or will they be completely EXCLUDED from the ELITE SOCIETY of the DESIGNER BABIES? Or will these gene–editing technologies be implemented only to prevent the untreatable diseases and won’t be represented in every clinic’s price–list? What will be there in the future? What consequences will be entailed by this unique Genome Editing Option? 

Encaptured by the Genome Editing Process? Wondering How Do They Understand What is Hidden in and What is Wrong with the Genetic Code? Want to Know More About That? Here You Go…

II.            How Do They Understand What is Hidden in and What is Wrong with the Genetic Code?

The scientists can ‘read’ and ‘interpret’ the encrypted information that is accurately stored in your DNA molecules. They can code, encode and edit it. Wondering how they ‘read’ the encrypted in your DNA molecules information? Intrigued by the fact that they not only understand what is wrong with the genetic code but also can correct it? Utterly amused that you have never envisioned in your mind those tiny gorgeous DNA–curled spirals? Feeling nervous that they can reveal the hidden mysteries in your genetic code? Then, it is high time to glance through this article as it was designed to explain to you how they understand what is wrong with the genetic code.

(2.1) What is the ‘Genetic Code’? Where is the genetic code hidden?

Virtually every tiny cell in your body contains the complete set of instructions for making you – YOU. These instructions are ENCRYPTED inside your DNA or the UNIQUE genetic code. Have you ever envisioned in your mind those tiny gorgeous DNA–curled spirals? DNA is a long, complex, ladder–shaped molecule that contains each person’s unique genetic code. And your UNIQUE genetic code is accurately designed, secretly encrypted, delicately enveloped and compactly packaged inside your DNA.

DNA is so long molecule that it should be compactly packaged inside something and ‘ENVELOPED’. DNA molecules are so long that they can’t fit into the cells without the accurate and compact packaging. To fit inside cells, DNA is curled up tightly to form the special thread–shaped structures – the chromosomes. And the chromosomes are the bundles of tightly coiled DNA located within the nucleus. In other words, the chromosomes are the gorgeous envelopes for the DNA molecules. Each chromosome contains a single DNA molecule. Metaphorically saying, the DNA molecule curls itself up, twists itself up, cuddles itself up, twirls itself up inside the chromosome.

Or scientifically saying, a single length of DNA is wrapped many times around lots of proteins, called ‘histones’, to form structures called nucleosomes. These nucleosomes then curl up tightly to create chromatin loops. The chromatin loops are then wrapped around each other to make a full chromosome. Each chromosome has two short arms (p arms), two longer arms (q arms), and a centromere holding it all together at the centre. Each of us has 23 pairs of chromosomes, which are found inside the cell’s nucleus. The DNA making up each of our chromosomes contains thousands of genes. At the ends of each of our chromosomes are sections of DNA called ‘telomeres’. Telomeres protect the ends of the chromosomes during DNA replication.

(2.2) What may happen with the DNA molecules?

When a cell divides in two, it makes a copy of its genome, then parcels out one copy to each of the two new cells without verifying the copies of the genome. So, two cells have valid but different genome copies. Theoretically, the entire genome sequence is copied exactly. But in practice, a wrong base is incorporated into the DNA sequence every time a cell divides in two, or a base or two might be left out or added. These mistakes or DNA pattern alterations are called ‘mutations’. These mutations can cause many different diseases. They are closely associated with the multisymptomatic and difficultly diagnosed disorders.

Sometimes these mutations are utterly complex. And the scientists should transcribe the genetic code to understand what exactly is wrong. That should be done prior to the accurate EDITING of these mutations. BUT WHY? Wondering why should it be done prior to the editing?

Every DNA molecule is like a uniquely programmed system. And those tiny gorgeous DNA–curled spirals possess the unique blend of decrypt and encrypted information and there is some space without information at all. In other words, those tiny gorgeous DNA–curled spirals are the strings of Pearl Rondelle Beads. There are some beads that are filled with content, and there are some beads that are without content. All the content should be revealed to understand the essence of the complex mutations. And the scientists should understand the those complex ‘mistakes’ [mutations] in the genetic code and accurately correct every mutation to prevent the disease.

(2.3) What is Gene Transcription? 

The genetic code is a mysterious miracle because it contains all the instructions a cell requires to sustain itself. As you know, it is hidden in the elegantly curled DNA spirals. Wondering which sparkling secret is hidden there and what this secret is?

The DNA’s most extraordinary secret — how a simple code is turned into something gorgeous. For example, how a simple code is turned in blood. There are two processes that are responsible for this: transcription and translation. So, it is necessary to accurately transcript and translate the information, hidden in the DNA spirals.

Transcription is the process by which the information in DNA is copied into messenger RNA. It begins with a bundle of factors assembling at the start of a gene. A gene is simply a length of DNA instructions stretching away to the left. The assembled factors trigger the first phase of the process, reading off the information that will be needed to make the protein. Everything is ready to roll: three, two, one, GO!

The blue molecule racing along the DNA is reading the gene. It is unzipping the DNA double helix and copying one of the DNA’s two strands. The yellow chain curling out [like a bundle of curls] of the top is a copy of the genetic message and it is made of RNA. The building blocks to make the RNA enter through an intake hole. They are matched to the DNA – letter by letter – to copy the ‘As’, ‘Cs’, ‘Ts’ and ‘Gs’ of the gene. The only difference is that in the RNA copy, the letter ‘T’ is replaced with a closely related building block known as ‘U’. This process – is called ‘Transcription’. This blue molecule that is racing along the DNA and reading the gene is RESPONSIBLE for the accurate COPYING of the genetic information.

(2.4) What is Gene’s Translation? 

The gene transcription process is a miracle. And we get that. But there are so many nuances of the process that follow its completion. Here, the miracle comes. The yellow molecule that was designed during the transcription process is the messenger RNA (mRNA). It leaves the nucleus and inspiringly wanders around looking for tits fiancée. It is really a capricious one, as it is constantly saying ‘You are not unique’. ‘You are not gorgeous’. ‘You are not beautiful’. ‘Your glittering curls are not dark–gold–colored’, etc. The only one can capture its attention. Until the time mRNA would find it, it would be apathetic, capricious or depressed. The bundle of mRNA desires to ‘Hug and Cuddle up to its fiancée’, the bundle of ribosomal RNA (rRNA).

When the RNA copy is complete, it snakes out into the outer part of the cell. At the ribosome, ribosomal RNA (rRNA) binds to mRNA. Then in a dazzling display of choreography, all the components of a molecular machine lock together around the RNA to form a miniature factory called a ‘Ribosome’. It translates the genetic information in the RNA into a string of amino acids that will become a protein.

Inside the ribosome, the RNA is pulled through like a tape. The code for each amino acid is read off, three letters at a time, and matched to three corresponding letters on the transfer molecules. When the right transfer molecule plugs in, the amino acid it carries is added to the growing protein chain. And after a few seconds, the assembled protein starts to emerge from the ribosome. Ribosomes can make any kind of protein. It just depends what genetic message is set in on the RNA.

(2.5) How do they transcript and translate the genes? 

The processes of transcription and translation are happening every moment in almost every cell in your body. And if the DNA molecule has the defective genes, the transcription [the copying] of the information will also include the mutations. And the translation of the information will be also incorrect.

We have already mentioned some exciting applications of the CRISPR system, including the manipulation of RNA sequences, and the visualization of chromosomes in the previous article. The CRISPR system has been documented to be very reliable and specific in altering gene expression, via leveraging inactive catalytically dead CRISPR–associated protein 9 (Cas9). At present, the scientists adopted CRISPR–Cas9 Multifunctional Complex/Platform for the gene transcription and monitoring cell fate. They do it by deactivating Cas9 enzyme completely so that it can no longer cut DNA. Instead, the transcriptional activators are added to the Cas9 to activate or repress gene expression. That seems that the CRISPR system has a wonderful application – the modulation of transcription.

When the Cas9 is converted into deactivated Cas9 (dCas9), the CRISPR system applications may be reprogrammed. Instead of CRISPR editing, CRISPR activation, and protein imaging, they can alternatively choose the CRISPR interference application. This application works in the following way: dCas9 can repress transcription by interfering with transcription initiation by being targeted to the gene of interest with a properly chosen Guide–RNA, and this stops the transcription and translation of the dangerous genes. They will be deactivated. It is one of the most possible versions of exclusive Genome–Editing tools. It shows that it is possible to turn a disease–causing mutation into a healthy version of the gene.

The genetic code is a “blueprint” because it contains the instructions a cell requires to sustain itself. The instructions stored within DNA can be “read” in two steps: transcription and translation. In transcription, a portion of the double–stranded DNA template gives rise to a single–stranded RNA molecule. Transcription of an RNA molecule is followed by a translation step, which ultimately results in the production of a protein molecule. Controlling transcription and translation helps to understand what is wrong and what causes the cell fate. Regulation of cell pluripotency and tissue morphogenesis is achieved by transcriptional regulation of unique combinations of gene targets at precise times during development. That seems that they can exclude the life–threatening disease–causing genes from the embryo code. Doesn’t that amazing, does it?

If the Genetic Code is a Blueprint how does the Genome Mutations Happen? And Why Does That Happen? 

III.          Genome Mutations: Why Do They Happen? Is It Possible to Prevent or to Correct Them?

Genome Mutations: Why Do They Happen? Is It Possible to Prevent or to Correct Them?

Genome Editing (or Gene Editing) are the technologies that give scientists the ability to alter the DNA strands’ structure. These technologies are used to correct the genetic defects or to exclude the possibility of the serious diseases’ further transmission to the baby. They allow genetic material to be EDITED, or, in simple words, to be added, removed, or altered at particular locations in the genome. Genome edition technology is the intervention with the unique options that can correct the known genetic defects.

(3.1) DNA? DNA?? DNA??? What is ‘DNA’? Is there any basic info for the accurate DNA understanding? 

Your body contains from 5 billion to 200 million trillion tiny cells. The scientists cannot say the exact number because some types of the cells are easy to spot, while the others – such as tangled neurons that twist themselves up, or curl themselves up, or cuddle up to one another, making it impossible to count their number.

Virtually every tiny cell in your body contains the complete set of instructions for making you – YOU. These instructions are ENCRYPTED inside your DNA or the UNIQUE genetic code that makes you – YOU. Have you ever envisioned in your mind those tiny gorgeous DNA–curled spirals? DNA is a long, complex, ladder–shaped molecule that contains each person’s unique genetic code. And your UNIQUE genetic code is accurately designed, secretly encrypted, delicately enveloped and compactly packaged inside your DNA.

As we have mentioned, DNA is a long, ladder–shaped molecule, designed especially to encrypt your unique genetic code. Each rung on the ladder is made up of a pair of interlocking units. These called interlocking units are called bases. They are designated by the four letters in the DNA alphabet – ‘A’, ‘T’, ‘G’ and ‘C’. ‘A’ always pairs with ‘T’, and ‘G’ always pairs with ‘C’.

(3.2) DNA is so long molecule that it should be compactly packaged inside something and ‘ENVELOPED’

DNA molecules are too long. They are so long that they can’t fit into the cells without the accurate and compact packaging. To fit inside cells, DNA is curled up tightly to form the special thread–shaped structures – the chromosomes. And the chromosomes are the bundles of tightly coiled DNA located within the nucleus. In other words, the chromosomes are the gorgeous envelopes for the DNA molecules. Each chromosome contains a single DNA molecule. Metaphorically saying, the DNA molecule curls itself up, twists itself up, cuddles itself up, twirls itself up inside the chromosome.

Or scientifically saying, a single length of DNA is wrapped many times around lots of proteins, called ‘histones’, to form structures called nucleosomes. These nucleosomes then curl up tightly to create chromatin loops. The chromatin loops are then wrapped around each other to make a full chromosome. Each chromosome has two short arms (p arms), two longer arms (q arms), and a centromere holding it all together at the centre. Each of us has 23 pairs of chromosomes, which are found inside the cell’s nucleus. The DNA making up each of our chromosomes contains thousands of genes. At the ends of each of our chromosomes are sections of DNA called ‘telomeres’. Telomeres protect the ends of the chromosomes during DNA replication.

(3.3) The most amusing fact about chromosomes: there are glittering chromosome tips at the ends of each chromosome (each chromosome tip has the sparkling molecular shoe on it. Isn’t it wonderful?)

Chromosomes do love the ought shoes couture. Therefore, there are so many glittering molecular shoes that are worn on every chromosome–tip. Sounds intriguing, isn’t it? These ‘shoes’ are called ‘telomeres’. Telomeres are the glittering chromosome–tips that prevent the gene loss. Every time a cell carries out DNA replication, the chromosomes are shortened by about 25–200 bases (‘A’, ‘C’, ‘G’, or ‘T’) per replication. However, ends of each of our chromosomes are protected by telomeres, the only part of the chromosome that is lost is the telomere, and the DNA is left undamaged. Without telomeres, important DNA would be lost every time the cell divides. This would eventually lead to the loss of the entire gene.

(3.4) Chromosomes are organized into Genes. Gene? Genes? What Are Genes? 

Chromosomes are further organized into short segments of DNA called genes. Genes are the essential templates the body uses to make the structural proteins and enzymes needed to build and maintain tissues and organs. They are made up of strands of genetic code, denoted by the letters ‘G’, ‘C’, ‘T’ and ‘A’.

Each of us has about 20,000 genes bundled into 23 pairs of chromosomes all curled up in the nucleus of nearly every cell in the body. It is interesting to note that only around 2% of our genetic code, or genome, is made up of genes. Another 10% regulates them, ensuring that genes turn on and off in the right cells at the right time, for instance. And the rest of our DNA is apparently a beautiful glittering accessory (as the DNA is long and ‘curly’ spiral molecule).

(3.5) Genome. What is genome? Is that the same as ‘gene’ or something different? 

A genome is a body’s complete set of genetic instructions. Genome, or our unique genetic code, is made up of genes. Our genome is approximately 3,000,000,000 base pairs long and is packaged into 23 pairs of chromosomes. This set of instructions is known as our genome and is made up of DNA twisted–shaped molecules. DNA molecules have the encrypted unique chemical code that Manages everything in our bodies.

(3.6) The Genome is multidimensional genetic code, but why it is also unique? 

Every genome is different because of mutations — ‘mistakes’ that occur occasionally in a DNA sequence. When a cell divides in two, it makes a copy of its genome, then parcels out one copy to each of the two new cells without verifying the copies of the genome. So, two cells have valid but different genome copies. Theoretically, the entire genome sequence is copied exactly. But in practice, a wrong base is incorporated into the DNA sequence every time a cell divides in two, or a base or two might be left out or added. These mistakes or DNA pattern alterations are called ‘mutations’.

(3.7) What types of gene mutations may occur?

Mutations may be natural or induced. They may occur at the chromosome level, gene level, or molecular level. Spontaneous mutations occur if the DNA application (DNA app fails to copy accurately) has some mistakes when a cell divides in two and makes a copy of its genome, then parcels out one copy to each of the two new cells without verifying the copies of the genome. So, two cells have valid but different genome copies.

Induced mutations are caused by artificial agents’ (mutagens) interventions.

[1] Missense mutation (or Point mutation) is the most common type of gene mutation. This type of mutation changes a single nucleotide base pair. Point mutation is an alteration in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene. In other words, it is a change that occurs in a DNA sequence. Mutations are common in our DNA, but most of them have no detectable effect.

[2] Substitution is the mutation when one or more bases in the sequence are replaced by the same number of bases (for example, a cytosine substituted for an adenine?

[3] Inversion is the mutation when a segment of a chromosome is reversed end to end.

[4] Insertion is the mutation when a base is added to the sequence.

[5] Deletion is the mutation when a base is deleted from the sequence.

(3.8) Why are the gene mutations dangerous?

A mutation is a change that occurs in our DNA sequence, either due to mistakes when the DNA is copied or as the result of environmental factors. Depending on where the mutations occur, they can affect the DNA sequence or even the chromosomes. They can have no effect on the DNA sequence and the chromosomes. Or they can change the DNA sequence or even the chromosomes so much that it would result in a genetic disorder.

Any type of mutation may cause the genetic disorder. A genetic disorder is a disease that is caused by a change, or mutation, in a person’s DNA sequence. The mutations can cause such diseases as Alzheimer’s disease, Cystic fibrosis, Hemophilia, Huntington’s disease, tumor diseases etc.

(3.9) How to prevent or correct genetic diseases?

The best way for prevention is testing. Genetic testing is an incredibly useful tool for identifying changes or mutations in DNA that could lead to genetic disease.

Genetic testing involves carrying out a range of tests on samples of DNA taken mainly from blood, hair, skin. The DNA sample is then sent to the laboratory where scientists look for specific changes in the DNA to find and identify any genetic disorders. The results of the genetic screening are then sent in writing to the doctor so that your doctor can discuss them with you. Your doctor can recommend you the alternative methods to solve your issues and to cope with your situation.

(3.10) Genome Editing? What is genome editing? 

Genome editing is a technique used to precisely and efficiently modify DNA fragments within a cell. An enzyme cuts the DNA at a specific sequence, and when this is repaired by the cell a change or ‘edit’ is made to the sequence. Genome editing can be used to add, remove, or alter DNA in the genome. Genome editing is used to correct the genetic defects or to exclude the possibility of the serious diseases’ transmission to the baby.

Genome editing is the introduction of changes in precise chromosomal DNA sequences. This technology not only changes DNA sequence specificity and double–stranded DNA but it presents the new opportunities for those suffering from serious genetic diseases. Literally, these technologies give those who have the genetic disease the chance.

But the Genome Mutations may be completely excluded??? The wrong genes may be replaced completely by the correct ones! The Embryo Code Can Be Modified with CRISPR Technology for Genome Editing!

The Embryo Code Can Be Modified with CRISPR Technology for Genome Editing

Genome Editing (or Gene Editing) are the technologies that give scientists the ability to alter the DNA strands’ structure. These technologies are used to correct the genetic defects or to exclude the possibility of the serious diseases’ further transmission to the baby. They allow genetic material to be EDITED, or, in simple words, to be added, removed, or altered at particular locations in the genome.

(4.1) What is ‘Genetic Code’? Where is the genetic code hidden?

Virtually every tiny cell in your body contains the complete set of instructions for making you – YOU. These instructions are ENCRYPTED inside your DNA or the UNIQUE genetic code. Have you ever envisioned in your mind those tiny gorgeous DNA–curled spirals? DNA is a long, complex, ladder–shaped molecule that contains each person’s unique genetic code. And your UNIQUE genetic code is accurately designed, secretly encrypted, delicately enveloped and compactly packaged inside your DNA.

DNA is so long molecule that it should be compactly packaged inside something and ‘ENVELOPED’. DNA molecules are so long that they can’t fit into the cells without the accurate and compact packaging. To fit inside cells, DNA is curled up tightly to form the special thread–shaped structures – the chromosomes. And the chromosomes are the bundles of tightly coiled DNA located within the nucleus. In other words, the chromosomes are the gorgeous envelopes for the DNA molecules. Each chromosome contains a single DNA molecule. Metaphorically saying, the DNA molecule curls itself up, twists itself up, cuddles itself up, twirls itself up inside the chromosome.

Or scientifically saying, a single length of DNA is wrapped many times around lots of proteins, called ‘histones’, to form structures called nucleosomes. These nucleosomes then curl up tightly to create chromatin loops. The chromatin loops are then wrapped around each other to make a full chromosome. Each chromosome has two short arms (p arms), two longer arms (q arms), and a centromere holding it all together at the centre. Each of us has 23 pairs of chromosomes, which are found inside the cell’s nucleus. The DNA making up each of our chromosomes contains thousands of genes. At the ends of each of our chromosomes are sections of DNA called ‘telomeres’. Telomeres protect the ends of the chromosomes during DNA replication.

(4.2) One AMUSING FACT about the genetic code

As we have mentioned, DNA is a long, ladder–shaped molecule, designed especially to encrypt your unique genetic code. Each rung on the ladder is made up of a pair of interlocking units. These called interlocking units are called bases. They are designated by the four letters in the DNA alphabet – ‘A’, ‘T’, ‘G’ and ‘C’. ‘A’ always pairs with ‘T’, and ‘G’ always pairs with ‘C’.

The most amusing fact about chromosomes: there are glittering chromosome tips at the ends of each chromosome (each chromosome tip has the sparkling molecular shoe on it). Isn’t it wonderful? Chromosomes do love the ought shoes couture. Therefore, there are so many glittering molecular shoes that are worn on every chromosome–tip. Sounds intriguing, isn’t it? These ‘shoes’ are called ‘telomeres’. Telomeres are the glittering chromosome–tips that prevent the gene loss. Every time a cell carries out DNA replication, the chromosomes are shortened by about 25–200 bases (‘A’, ‘C’, ‘G’, or ‘T’) per replication. However, ends of each of our chromosomes are protected by telomeres, the only part of the chromosome that is lost is the telomere, and the DNA is left undamaged. Without telomeres, important DNA would be lost every time the cell divides. This would eventually lead to the loss of the entire gene. But it is safely encrypted, so you shouldn’t worry about that.

(4.3) What may happen with the DNA molecules?

When a cell divides in two, it makes a copy of its genome, then parcels out one copy to each of the two new cells without verifying the copies of the genome. So, two cells have the valid but different genome copies. Theoretically, the entire genome sequence is copied exactly. But in practice, a wrong base is incorporated into the DNA sequence every time a cell divides in two, or a base or two might be left out or added. These mistakes or DNA pattern alterations are called ‘mutations’. These mutations can cause many different diseases.

(4.4) What is CRISPR–Cas9 Complex/Platform and how does it work?

As the Embryo’s genetic code consists of the oocyte’s DNA (half of the mother’s genetic code) and spermatozoon’s DNA (half of the father’s genetic code), it should be edited after fertilization when the genetic code will be complete. That means that they will inject your embryos with the CRISPR–Cas9 Complex. And the injected CRISPR components that target and cut DNA in a specific place will EDIT [correct] the embryos’ genetic codes (disease–causing genetic mutations and mosaics). Especially CRISPR–Cas9 Platform is of essential to correct a mutation that causes an inheritable heart condition. Catching and correcting the mutation in this case, in the earliest stages of embryo development would either reduce or eliminate the need for treatment in the future.

The CRISPR–Cas9 Complex/Platform is an exceptionally accurate MOLECULAR tool for cutting DNA molecules at the specifically targeted locations. There are two molecular components in the CRISPR system: a DNA–cutting enzyme called Cas9, and another molecule known as a Guide–RNA. Cas9 enzyme cuts the genome at a site targeted by an RNA guide molecule. Bound together they form a complex/platform that can identify and cut specific sections of the DNA. Metaphorically, CRISPR–Cas9 Complex/Platform can be described as a molecular hand with wrists, palm, and fingers. Its molecular fingers are Cas9 DNA–cutting enzyme.

First, CRISPR–Cas9 complex identifies the disease–causing genetic mutations and mosaics in the DNA’s structure. After the identification, the CRISPR–Cas9 platform stops and Cas9 has to locate and bind to a common sequence in a genome (PAM gene (Protein Coding)). Once a PAM is bound, the Guide–RNA molecule unwinds the part of the double DNA’s Helix. The RNA–strand is exclusively designed to match and bind to a particular sequence in the DNA’s strand. It identifies the disease–causing genetic mutations and mosaics in those gorgeous DNA–curled spirals. Once it finds the correct sequence, enzyme Cas9 can cut the DNA’s strand. Cas9 has two nucleus domains ‘molecular scissors’ that cut a double DNA’s strand.

This technology works as a ‘tiny pair of molecular scissors’ that cut out the unnecessary DNA strand. Once the affected DNA is cut, the cell will repair the cut by joining the DNA strands’ ends (with some DNA at the cut side being lost so that a deletion is made), or by using any available DNA strands to complete the gap. Although the cell will try to repair this break, the fixing process often inevitably introduces the mutations that disable the defective gene.

(4.5) What else can CRISPR–Cas9 Complex/Platform do?

CRISPR–Cas9 Complex/Platform not only cuts out the defective genes. If one or both Cas9 cutting domains are deactivated, the new enzymes can be introduced to this platform. That seems that a ‘tiny pair of molecular scissors’ that cut out the unnecessary DNA strand will be deactivated, and the complex will work as a molecular platform that will transfer those new enzymes to a specific DNA’s sequence.

For example, the CRISPR–Cas9 Genome–Editing Complex/Platform can identify the defective DNA’s strand, which mutates the specific DNA–enzyme in the basis. Eventually, that enzyme can be replaced with the other enzyme. It is one of the most possible versions of exclusive Genome–Editing tools. It shows that it is possible to turn a disease–causing mutation into a healthy version of the gene.

The genetic code is a “blueprint” because it contains the instructions a cell requires to sustain itself. The instructions stored within DNA can be “read” in two steps: transcription and translation. In transcription, a portion of the double–stranded DNA template gives rise to a single–stranded RNA molecule. Transcription of an RNA molecule is followed by a translation step, which ultimately results in the production of a protein molecule. CRISPR–Cas9 Complex/Platform can be also used for the gene transcription and monitoring cell fate. They do it by deactivating Cas9 enzyme completely so that it can no longer cut DNA. Instead, the transcriptional activators are added to the Cas9 to activate (9) or repress gene expression.

(4.6) Are there any risks for the embryo? 

This genome–editing technology almost excludes the risk of making additional, unwanted genetic changes (called off–target mutations) and the risk of generating mosaics — in which different cells in the embryo contain different genetic sequences.

Genome edition technologies are the interventions with the unique EDITING OPTIONS that can correct the known genetic defects by altering, removing or adding nucleotides to the genome. As a result, the DNA molecules are not only EDITED but also REPROGRAMMED. At present, the technique that is used for the embryo genome editing is called CRISPR–Cas9 Complex/Platform. This technique has shown the new sparkles in the genetics. Current scientific reviews show that CRISPR is not only an extremely versatile technology, but it’s also proving to be precise and increasingly safe to use. CRISPR allows editing the DNA sequences (to find, cut and then paste the new gene). Its many potential applications include identifying, validating and correcting the genetic defects, cutting the defected place in the DNA strands, treating and preventing the spread of diseases.

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