Telomere are the long repetitive stretch of non-coding, G rich DNA sequences, located at   the distal end of linear chromosomes. These sequence are non-coding, but functional and also  important regulator of the genome, as it is essential for maintenance of genomic integrity, by  protecting coding genetic material from the fusion with neighbouring chromosomes. A sheltrin  protein complex composed of six subunits and a telomerase enzyme, a ribonucleoprotein  complex are important regulator of telomere, which protects the telomere sequences from   the DNA damage response machineries and maintains the length of telomere by extension
of 3’ G-overhang respectively. Telomerase activity is high in germline and stem cells, which   contributes to genome stabilisation, and suppressed in somatic cells; hence with each cell   division, telomere undergo age dependent incremental attrition of telomere length. Several  factors are reported, which affects telomere length and telomerase activity in healthy individual  as well as disease condition. A limited studies from the India have been reported on telomere   length attrition and telomere gene mutations in isolated disease conditions. The present review  primarily focusing on the telomeres in genetic disease and the cancers, suggesting a need of  triad of telomere study including telomere length analysis, telomerase activity along with the  genetic mutations using multiple approaches to enhance the clinical implication of telomeres  in various diseases.