PGS & PGD

Preimplantation Genetic Screening (PGS) & Diagnosis (PGD)


PGD PGSDesigner 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 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 (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 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 throughIn 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 (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, 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…


  • 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.


  • 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.


  • 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.


  • 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.


  • 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.


  •  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? 


  • 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.


  •  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’.


  •  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.


  •  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.


  •  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 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.


  • 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’.


  •  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.


  • 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.


  • 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 (PGS) 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.


  • 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.


  •  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.


  • 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.


  • 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.


  • 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.


  • 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.


  • 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.

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!


OVU.com:  Connecting Clinics with Patients! Connecting Patients with Clinics!  Connecting the World of the Most Powerful and Trusted Clinics with the  World of Patients in One Safe, Exclusively Designed Environment! The  Miracles start here… All the Treatment Options Are at Your Fingertips!  OVU.com

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