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PGS & PGD

Preimplantation Genetic Screening (PGS) & Diagnosis (PGD)



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 (PGD), Preimplantation Genetic Screening (PGS), 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!


(1) Who are the DESIGNER BABIES?

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

In other words, designer babies are babies that are exclusively created through a genetic screening (PGS) 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 genes to create opportunities for genetic makeup. And in some situations,   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 gossip about boutique–embryo–babies. The babies are absolutely perfect both morphologically and esthetically. And you will be amused to hear ‘YES’. Yes, it is possible to have a 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 genome–editing techniques, embryologists can design babies by 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 mosaics. 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 (PGD). 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, 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 embryo germline editing. Basically, these two techniques are biopsies. The biopsy is an 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 utter accuracy because they can harm the embryo. In other words, during PGD or PGS the reproductive specialists must not 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 a set of molecular scissors (an enzyme that cuts DNA), that cut out 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 doctors to edit the DNA sequences (to find, cut and then paste the new gene). Its many potential applications include identifying, validating, and correcting genetic defects, cutting the defective place in the DNA strands, and treating and preventing the spread of diseases.


Creation of the designer babies is a 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 and 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  DESIGNER BABIES? Or will these gene–editing technologies be implemented only to prevent 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…


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

The doctors 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 that 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.


  • 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 a 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 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,  and twirls itself up inside the chromosome.

Or scientifically said, 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.


  • 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 multisymptomatic and difficultly diagnosed disorders.

Sometimes these mutations are utterly complex. And 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 decrypted 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 those complex  ‘mistakes’ [mutations] in the genetic code and accurately correct every mutation to prevent the disease.


  • 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 into 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.


  • 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 that 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 on what genetic message is set in the RNA.


  •  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 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, scientists adopted CRISPR–Cas9 Multifunctional  Complex/Platform for 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 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 do the Genome Mutations Happen? And Why Does That Happen? 


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

Genome  Editing (or Gene Editing) is the technology that gives scientists the ability to alter the DNA strands’ structure. These technologies are used to correct genetic defects or to exclude the possibility of 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 an intervention with unique options that can correct known genetic defects.


  •  DNA?  What is ‘DNA’? Is there any basic info for 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, 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’.


  •  DNA is so a long molecule that 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 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, and twirls itself up inside the chromosome.

Or scientifically said, 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.


  •  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 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,  the 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.


  •  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).


  • Genome. What is a genome? Is that the same as ‘gene’ or something different? 

A  genome is a body’s complete set of genetic instructions. The 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.


  • The Genome is a 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’.


  •  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]  A 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.


  • Why are 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 a 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.


  • How to prevent or correct genetic diseases?

The best way to prevent this is by 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, and 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 (PGS) are then sent in writing to the doctor so that your doctor can discuss them with you. Your doctor can recommend alternative methods to solve your issues and to cope with your situation.


  • 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 genetic defects or to exclude the possibility of 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 new opportunities for those suffering from serious genetic diseases. Literally, these technologies give those who have genetic diseases 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) is the technology that gives scientists the ability to alter the DNA strands’ structure. These technologies are used to correct genetic defects or to exclude the possibility of 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.


  •  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 a 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 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,  and twirls itself up inside the chromosome.

Or scientifically said, 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.


  • 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 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, the 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.


  • 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.


  • 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 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 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, palms,  and fingers. Its molecular fingers are Cas9 DNA–cutting enzymes.

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 strand. Cas9  has two nucleus domains ‘molecular scissors’ that cut a double DNA 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.


  • What else can CRISPR–Cas9 Complex/Platform do?

CRISPR–Cas9  Complex/Platform not only cuts out 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 sequence.

For example, the CRISPR–Cas9 Genome–Editing Complex/Platform can identify the defective DNA 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 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.


  • 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 interventions with unique EDITING  OPTIONS that can correct 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 embryo genome editing is called CRISPR–Cas9  Complex/Platform. This technique has shown new sparkles in 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 genetic defects,  cutting the defective place in the DNA strands, and treating and preventing the spread of diseases.

The World of Sophisticated Options is at Your Fingertips! Wondering what every option noted in this list means? Worrying about the advantages and disadvantages it has? Not sure that this option is designed for you? Feeling like a bundle of nerves because you have no idea what option should be chosen because there are several ones that may be proposed for you? No worries here! We will navigate you in this  Complex Ecosystem and will show you what is “inside” every treatment option! Why Waiting? All the Options are at your Fingertips! Just Bundle  Up and Glance Through!


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