The Problem
Premature termination codons affect millions globally, yet therapeutic options remain limited
What Are Premature Termination Codons?
"A single wrong 'period' in the genetic sentence can silence an entire protein story."
Premature termination codons (PTCs) act like stop signs placed too early in a genetic message. When ribosomes—the cellular machines that read RNA—encounter these incorrect stops, they halt protein production mid-sequence.
The result: truncated, non-functional proteins that cause devastating rare diseases affecting millions of patients worldwide.
Understanding Translation
India's Genetic Landscape: PTC-linked Conditions
≈10–11% nonsense/PTC variants globally
Cystic Fibrosis (CFTR)
PTC in CFTR causes truncated CFTR protein
Duchenne Muscular Dystrophy (DMD)
PTC in DMD truncates dystrophin; severe myopathy
β-Thalassemia (HBB)
PTC reduces β-globin, leading to anemia
Hemophilia A (F8)
PTC in F8 causes factor VIII deficiency
Familial Adenomatous Polyposis (APC)
Truncating APC variants drive polyposis risk
Cancer risk genes (BRCA1/2, ATM)
Truncations increase cancer susceptibility
India's Genetic Landscape
0
Population
Diverse genetic landscape
0
Genetic Centers
Across all states
0
Rare Diseases
Documented conditions
0%
Undiagnosed
Patients without molecular confirmation