Genetic Diseases Current Affairs - 2020

National Centre for Cell Science: The Cellular Mechanism of Huntington Disease discovered

On March 20, 2020, the National Centre for Cell Science have found that the pathogenic protein called the Huntingtin Protein causes decrease in overall protein production.

What is Huntington Disease?

The disease is a genetic disorder that declines cognitive abilities, impairs coordination of balance and movement, memory lapses, mood swings and personality changes.

The disease is caused due to the mutation of the gene called HTT. The major function of these genes is to produce protein called Huntingtin. A normal gene gives the right instruction to produce these proteins. A mutated gene gives faulty instructions. This disrupts the normal functioning of the brain and results in Huntington disease.

The Discovery

The Scientists have found that in a diseased person the Huntingtin protein interfered with the protein production of the cells. This is how wrong instructions are sent, mainly due to faulty protein level. They also reduced the level of protein production of a normal cell.

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CRISPR (CaS9)-The Gene Editing Tool used to treat blindness for the first time

The Gene Editing Tool called CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) has been used for the first time to treat blindness. However, doctors claimed that it will take a month to check if the vision of the patient has restored. This has been achieved at the Oregon University, Portland, USA.

What is CRISPR?

It is a family of DNA sequences that are found in prokaryotic organisms like bacteria. They are derived from DNA of Bacteriophages. Bacteriopage is a virus that infects bacteria and archaea.

Technology Used

The CRISPR-Cas is used to edit genes in an organism. It is an enzyme. Cas is CRISPR Associated protein.

How does it work?

The CRISPR based tool allows to target genomic location. After identifying the target, it adds, removes or alters that particular DNA sequence.

Pros and Cons

The Gene Editing technology can be used to modify disease causing genes. It is capable of editing genetic diseases as well. On the other hand, it marks irreversible changes in the bodies of future children. Many activists believe that it is unethical and against nature.

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