Life Sciences & Biotechnology
Title : | Mutational Profiling and Molecular Characterization of SMA spinal muscular atrophy patients from Kashmir Region Of North India |
Area of research : | Life Sciences & Biotechnology |
Focus area : | Genetics and Neurogenetics |
Principal Investigator : | Ms. Rukhsana Hassan, Sher-i- Kashmir Institute Of Medical Sciences, Srinagar, Jammu And Kashmir (192210) |
Timeline Start Year : | 2024 |
Timeline End Year : | 2026 |
Contact info : | rukhsanahassan170@gmail.com |
Details
Executive Summary : | This study proposes the study of genetic variations and molecular mechanisms contributing to spinal muscular atrophy (SMA) in the Kashmir region of North India. The study will use mutational profiling, copy number variations, telomere length variations, and the expression of various RNBps to investigate the pathogenesis of SMA. The results will provide insights into the genetic factors influencing disease progression and potentially inform prognosis and treatment decisions. The study will also use statistical tools like t-test, chi-square test, and binary logistic regression analysis to validate the association of variants with SMA. The expected outcomes include identifying specific genetic mutations associated with SMA in the Kashmir region, characterizing population-specific genetic variations contributing to SMA, understanding how these genetic variations impact the severity and progression of SMA, and understanding the molecular mechanisms underlying SMA. The findings could improve diagnosis and genetic counseling for SMA patients, identify potential biomarkers for disease progression and treatment response, and contribute to the global understanding of SMA genetics and molecular mechanisms. |
Total Budget (INR): | 13,47,840 |
Organizations involved