Current status of gene therapy for genetic mutations

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DEE is a rare, highly complex, neurodevelopmental disorder with a wide variety of common symptoms. Their characteristics are:

Seizures that occur in childhood are often intractable with current medications
Abnormal brain electrical activity (abnormal EG)
Developmental delay or retardation and defective cognition
Sometimes sudden death at a young age.
In this article, we review how gene therapy currently stands worldwide for complex DEE-genetic disorders, such as Otahara syndrome, West syndrome, Traway syndrome, and Lennox-Casteau syndrome [2].

Before going into it, let's take a look at some questions and answers. Only then can the above be fully understood.

What is a genetic disorder?
How many types of disorders? What diseases does it cause?
Are there cures for all genetic diseases?
What is gene therapy? [Gene therapy will be referred to as gene therapy in the following article.]
How is another gene the cure for genetic defects?
Why has it taken so long to find cures even though human genomes have been analyzed since 2000? For that, how tough are the challenges?
Every week some of the news is about the color of gold, through gene therapy; A child's mind; We are going to Email Data know that they say that it is possible to have designer babies who have a tendency to fall, and then there is a delay. Let's see the answers to these.
1 About gene therapy
After the availability of mRNA-based vaccines against Sars-Covid-2 virus, the use of gene-based drugs will increase dramatically. One of the few positive developments that the Covid-19 pandemic has created is that gene therapy has accelerated research and, in particular, the process of drug approval by regulatory agencies (eg CDSCO, India; USFDA, USA).

1.1 Gene therapy and its three types
Genetic medicines based on naturally occurring or synthetically produced ribonucleic acid (mRNA, microRNA, long noncoding RNA, circular RNA & sometimes DNA) can be used as medicine for genetic mutations. They are basically classified as follows.

A type of gene therapy is direct delivery into the body for diseases caused by genetic defects. Whether and how depends on the nature of the genetic defect.
One treatment is to extract primary cells ( somatic stem cells , described in Step 1 below ) from the body of a patient with a genetic defect, cut out the mutated gene in the laboratory, grow more of the corrected stem cells, and inject them back into the patient's body. This correction is possible with a gene editing technology called CRISPR, which won the Nobel Prize in 2020.
Of course, these activities require the approval of a regulatory authority (either at the national level of the country where the technology is performed, or according to/subject to the regulatory guidelines of the research/medical institution doing it).



Sometimes, if needed, peripheral tissue cells (epithelial cells) from the patient's skin or urine can be extracted and even induced into primary cells (Induced pluripotent stem cells, step 2 below ) ; A Japanese named Shinya Yamanaka was awarded the Nobel Prize in 2012 for discovering this technology.

In India, as oil pours into Onam Satya (there is, but not), at a few research institutes (eg IGIB, AIIMS, New Delhi), research into some genetic mutations continues. In 2019, a gene therapy advisory and evaluation committee was formed, and in 2020, two meetings were held, and preliminary clinical trials were approved for seven genetic mutations. In another article we will see about this group which will function according to Indian tradition (!). As a side effect, by 2021, a national policy for rare diseases has been developed.

Stage 1: Embryonic stem cells are the only cells that develop from a single cell to about 150 cells within the first five days of an embryo forming. These cells have the ability to self-replicate indefinitely. A protein called NAT1 (Novel APOBEC1 Target #1) is responsible for this. The link was confirmed by knocking out the gene that produces this protein in a mouse, meaning gene editing research is essential to such findings.
These stem cells naturally have the potential to differentiate into any other cell (eg dopaminergic neurons, neural stem cells, heart cells) and then into another organ. Research continues to determine precisely which organ receives and converts such commands.
Transplanting the extracted stem cells into the desired organ in the laboratory ( U.M. Liver Organoid . See – Phase 2 ) and transplanting it into the patient.
Treatment strategies depend on the nature of the genetic defect and the (disease) effect it produces. Depending on what challenging pathogenic mutation the disease is caused by, researchers will recommend the most appropriate one to doctors. Of the above, three gene drugs for DEE are on the global market, following the idea that the first treatment can be curative. The other two methods are at laboratory scale. That is, they have been developed in laboratory animals and have not yet been approved for human clinical trials.