Identification and genetic characterization of rare genetic diseases. Homo sapiens

Rare human genetic disorders are those genetic disorders that occur due to one or many nucleotide mutation in a single gene. Prevalence of such disorders is very low, affecting less than 5 per 10000 individuals. These may have life-threatening repercussions which may lead to a considerable reduction in an affected individual’s quality of life and his/her socio-economic potential. So far, more than seven thousand rare disorders have been reported in the scientific literature across the globe. Owing to their low prevalence, lack of scientific literature about them and their clinical overlap with phenotypically similar diseases, most of the rare disorders clinically remain misdiagnosed or orphan and untreated. Our research study is focused on identification of nucleotide variations that cause these disorders and their characterization with the help of advanced molecular biology techniques. This will help us towards understanding the molecular mechanisms underlying unidentified rare genetic disorders. Furthermore, this will facilitate molecular genetic testing to establish their clinical as well as prenatal diagnosis with certainty so that proper medical management can be provided to the affected individuals at its earliest and their misdiagnosis can be avoided. In future, information acquired from this study will be used to develop new and effective treatment methods and for providing genetic counseling to the affected families.