Projects

Project Description

As Lowe’s syndrome is a rare disease, most of the people are unaware of this syndrome. Due to this lack of knowledge, people may not be able to identify the disease at the earlier stage, which can lead to severity of the disorders associated with the syndrome. Hence, early detection and correct diagnosis of the syndrome will enable perinatal counseling and help identify markers that will help in prognostication. The molecular work using iPSC will help us understand the biological pathways involved in the disease process and obtain information of about the genotype-phenotype correlate by mapping these pathways to the genetic mutations.