Brief Context
Context Indias first human gene therapy trial for haemophilia was conducted through a collaboration between Biotechnology Research and Innovation Councils Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem) and CMC Vellore. What is Hemophilia? It is a rare genetic disorder that impairs the bodys ability to control blood clotting or coagulation.
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Syllabus: GS2/ Health, GS3/ Science and Technology
Context
- India’s first human gene therapy trial for haemophilia was conducted through a collaboration between Biotechnology Research and Innovation Council’s Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem) and CMC Vellore.
What is Hemophilia?
- It is a rare genetic disorder that impairs the body’s ability to control blood clotting or coagulation.
- This can lead to spontaneous bleeding as well as bleeding following injuries or surgery.
- Hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot.
- These genes are located on the X chromosome. Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX).
- Hemophilia can result in:
- Bleeding within joints that can lead to chronic joint disease and pain.
- Bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis.
- Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.
- The following two are the most common:
- Hemophilia A (Classic Hemophilia): This type is caused by a lack or decrease of clotting factor VIII.
- Hemophilia B (Christmas Disease): This type is caused by a lack or decrease of clotting factor IX.
- Treatment: There are 2 main approaches to treatment:
- Preventative treatment, where medicine is used to prevent bleeding and subsequent joint and muscle damage,
- On-demand treatment, where medicine is used to treat prolonged bleeding.
Gene Therapy to cure Hemophilia
- Indian scientists conducted the gene therapy trial for severe hemophilia A.
- The participants received autologous hematopoietic stem cells (HSCs), which were genetically modified using lentiviral vectors.
- These modified HSCs are capable of giving rise to blood cells that produce functional Factor VIII protein over a substantial period of time.
- This approach reduces or eliminates the need for repeated Factor VIII infusions.
| Gene Therapy – It is a technique that uses genes to treat, prevent, or cure diseases by: 1.Replacing faulty genes, 2. Deactivating harmful genes, 3. Introducing new genes to restore health. Methods of Gene Therapy: 1. Somatic Cell Gene Therapy involves the insertion of therapeutic genes into non-reproductive (somatic) cells. The changes are not heritable and are limited to the individual receiving the treatment. 2. Germline Gene Therapy targets reproductive cells such as sperm or eggs, leading to heritable genetic changes. However, due to ethical and safety concerns, this type of therapy is currently banned in most countries, including India. |
Source: PIB