Clinical Genomics meets Rare Eye Diseases | Why are we doing this ? Understanding the mutational spectrum of the disease in the Indian context is of prime importance, given the large population, migration and population admixture, prevalent practice of endogamy and population stratification. Apart from a few reports, genetic there has been no data on the genetic epidemiology of the disease in India. Such a landscape would provide the much required data to enable fast and precise diagnosis and allow for appropriate therapy depending on the genetic variation. Through the Precision Medicine Opthalmology project, we aim to systematically characterize genetic variations in families affected by genetic diseases in India. Genetic analysis would be performed using whole exome sequencing. We invite you and your Department/Institute to be part of this ongoing collaborative effort. Contact Dr. Vinod Scaria (vinods@igib.in) Collaborators Dr. Vinod Scaria / CSIR-IGIB, Delhi Dr. Sridhar Sivasubbu / CSIR-IGIB, Delhi Funding The present initiative is supported by the Council of Scientific and Industrial Research (CSIR, India) through grant BSC0212. | Referral Process As part of the collaborative initiative, we aim to study rare cases of genetic diseases of the eye. We have a standardized consenting process and logistics for collecting blood samples for the research study which is detailed online at at http://guardian.meragenome.com/referral GUaRDIAN : Intergrating Personalised and Precision Medicine One of the programmes we have initiated is Genomics for Understanding Rare Disease, India Alliance Network (GUaRDIAN), which is a large-scale collaborative network of clinicians from around India trying to integrate genomics in clinical practice, with the a singular focus to elucidate the genetic structure of rare genetic diseases in India. |
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