Gene regulation is the main genetic program through which an organism controls its normal functions. Thus, any error in this program caused by mutations will alter the normal state and lead to disease. RNA splicing is increasingly realized to be at the center of gene regulation in eukaryotic organisms, including all animals and plants. In this context, Dr. Periannan Senapathy has pioneered research in the biology of RNA splicing, including understanding of why genes are split, what are splice junction sequences, and why exons are very short and introns are very long. Based on these findings, he has provided an algorithm (known as Shapiro & Senapathy algorithm, S&S) for predicting the splice sites, exons and genes in animals and plants . This algorithm has the ability to discover disease-causing mutations in splice junctions in cancerous and non-cancerous diseases that is being used in major research institutions around the world. The S&S algorithm has been cited in ~3,000 publications on finding splicing mutations in thousands of diseases including many different forms of cancer, non-cancer diseases and plants.
By using the S&S algorithm, mutations and genes that cause different forms of cancer, including, for example, breast cancer,ovarian cancer, colorectal cancer,leukemia, head and neck cancers,prostate cancer, retinoblastoma,squamous cell carcinoma and gastrointestinal cancer have been discovered. In addition, other diseases such as diabetes,hypertension,marfan syndrome,cystic fibrosis,cardiac diseases, eye disorders, familial hypercholesterolemia, Parkinson disease, have also been uncovered. S&S has also been used in identifying mutations in genes involved in immunodeficiency diseases and in adverse drug reactions. Furthermore, S&S has been implemented for finding splice sites and mutations in several tools such as Human Splice Finder, SROOGLE, Splice-site Analyzer Tool, and dbass (Ensmbl).