Retinal Diseases: RNA therapeutics show promise but is India ready?

Retinal Diseases: RNA therapeutics show promise but is India ready?

According to the World Health Organisation, more than 2.2 billion people worldwide experience some forms of vision impairment

  • An estimated 5.5 million people suffer from IRDs around the world, with a prevalence rate of one in 3,450.
  • Studies have revealed significantly higher prevalence of such cases in India
    • one in 372 individuals in rural South India,
    • one in 930 in urban South India, 
    • and one in 750 in rural Central India affected by these conditions.

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What are Inherited Retinal Diseases (IRDs)?

Retinal Diseases

  • IRDs are genetic disorders causing progressive vision loss, often leading to blindness.
  • Caused by mutations in 300+ genes responsible for retinal function.
  • Some individuals lose vision early, while others experience gradual deterioration.
  • Early intervention can slow or prevent blindness in some cases.

How do Genes Affect Vision?

  • The body is made up of cells, each containing a nucleus with chromosomes made of DNA.
  • DNA contains genes, which provide instructions for making proteins essential for body functions.
  • A change (mutation) in a gene can cause proteins to function incorrectly or be missing.
  • Faulty proteins in the retina lead to IRDs and vision loss.

Risk Factors for IRDs

IRDs follow different inheritance patterns:

  • Autosomal Dominant: The defective gene is located on an autosome (non-sex chromosome).
    • A person inherits one faulty dominant gene from a parent and one normal gene from the other.
    • The faulty dominant gene causes the disorder.
  • Autosomal Recessive:  Both copies of the gene (one from each parent) must be defective. 
    • Parents are usually asymptomatic carriers.
      • 25% chance of inheriting the disease if both parents are carriers.
  • X-linked Disorders: The defective gene is located on the X chromosome. 
    • Males (XY) are more severely affected as they have only one X. 
    • Females (XX) may be carriers or show milder symptoms.
  • Mitochondrial Inheritance: Mutations occur in mitochondrial DNA (mtDNA), inherited exclusively from the mother (sperm do not contribute mitochondria).
    • Can affect multiple organs, including the eyes.

What is RNA-Based Therapy?

  • RNA-based therapies offer a safer alternative to gene therapy as they do not alter DNA permanently.
  • These therapies temporarily modify gene expression, reducing long-term risks.

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Types of RNA-Based Therapies

  • Antisense Oligonucleotides (ASOs)
    • Used successfully for spinal muscular atrophy and Duchenne muscular dystrophy.
    • Being tested for Stargardt disease, Leber congenital amaurosis, and retinitis pigmentosa.
  • RNA-Editing with ADAR Enzymes
    • Corrects specific mutations at the RNA level.
    • Can restore protein production in retinal cells without altering DNA.
  • Suppressor tRNA Therapy
    • Bypasses stop-codon mutations that disrupt protein synthesis.
    • Helps in producing full-length proteins to restore retinal function.
  • Small Molecule RNA Therapy (PTC124/Ataluren)
    • Used for cystic fibrosis and Duchenne muscular dystrophy.
    • Clinical trials underway for treating aniridia (a rare eye disease).

India’s Role in Precision Medicine

  • What is Precision Medicine?
    • It tailors treatments based on a person’s genetics, lifestyle, and environment.
    • Aims for personalized care instead of a one-size-fits-all approach.
  • Need for Genetic Research in India
    • Over 300 genes are linked to IRDs, but India lacks large-scale studies on genetic mutations in its population.
    • No major study (500+ patients) has mapped genetic variations in Indian IRD patients.
    • Identifying common genetic mutations is crucial for developing effective treatments.
  • Challenges in India
    • Genetic variations differ across communities in India, making research complex.
    • Barriers include:
      • Low awareness among doctors and patients.
      • Limited access to genetic counseling.
      • Insufficient research funding.
      • Lack of diagnostic infrastructure, especially in rural areas.

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UDAAN PRELIMS WALLAH
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Quick Revise Now !
UDAAN PRELIMS WALLAH
Comprehensive coverage with a concise format
Integration of PYQ within the booklet
Designed as per recent trends of Prelims questions
हिंदी में भी उपलब्ध

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