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Mahesh

20/06/24 10:52 AM IST

India getting close to developing gene therapy for sickle cell disease

In News
  • India is getting closer to developing a gene therapy for sickle cell disease, a genetic blood disorder with a high prevalence rate among the Scheduled Tribes.
Gene Therapy
  • Developing a gene therapy using CRISPR has been part of India’s mission to eradicate sickle cell disease by 2047. 
  • Part of this mission is to also conduct over seven crore screenings among vulnerable tribal populations across 17 States and Union Territories, of which three crore screenings have been achieved so far.
  • The CRISPR-Cas9 system consists of an enzyme that behaves like molecular scissors which can be directed to cut a piece of DNA at a precise location.
  • This will then allow a guide RNA to insert a changed genetic code at the sites of the incision.
  • While there are a few ways to effect such changes, the CRISPR system is believed to be fast and the most versatile of all.
  • Apart from the gene therapy being developed by India, the sickle cell disease eradication mission also includes developing two coded formulations — AYUSH-RP and AYUSH-SC3 — for managing the disease through a systemic drug development process, for which continued testing will be undertaken by the Central Council for Research in Ayurvedic Sciences in collaboration with the Indian Council of Medical Research.
Sickle Cell Anaemia
  • In 1910, a physician named James Herrick wrote of discovering unusual red blood cells in an anaemic student from Granada, Spain.
  • Unusual, because unlike their usual globular structure with an indented center – like a doughnut with a hole – these blood cells were shaped like a sickle, similar to the letter C.
  • This was the first description of sickle cell anaemia in western medical literature.
  • Haemoglobin which is tasked with carrying oxygen to all parts of the body has four protein subunits — two alpha and two beta. In some people, mutations in the gene that creates the beta subunits impact the shape of the blood cell and distort it to look like a sickle.
  • A round red blood cell can move easily through blood vessels because of its shape but sickle red blood cells end up slowing and even blocking, the blood flow.
  • Moreover, sickle cells die early, resulting in a shortage of red blood cells that deprive the body of oxygen.
  • These obstructions and shortages may cause chronic anaemia, pain, fatigue, acute chest syndrome, stroke, and a host of other serious health complications.
  • Without treatment, quality of life is compromised and severe cases can become fatal in the initial years of life.

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