Back close
About the Project

Anorectal malformations (ARM) are individually common but Congenital Pouch Colon (CPC), a rare anorectal anomaly causes a dilated pouch in the genitourinary tract. In this work, we attempt to identify driver/de novo heterozygous missense variants and further discover variants of unknown significance (VUS) which could provide insights into CPC manifestation and its etiology. Our earlier experience on design, setting and participants have allowed us to understand the genetic makeup of CPC and identified genes responsible for the disease. The precise variants from this study will allow us to further validate for revealing disease-causing mutations associated with CPC and genitourinary diseases which could close the gaps of surgery by bringing intervention in therapies. A subset of samples could also be further screened for whole genome sequencing/targeted genome sequencing studies as we aim to develop a panel for such rare diseases.

Department & Campus

Amrita school of Biotechnology, Amritapuri

Any Specific Skillsets Required by Applicants

Basic Bioinformatic/bash programming

Faculty profile

Bioinformatics and Systems Genomics
Dr. Prashanth N. Suravajhala

Principal Scientist, School of Biotechnology, Amritapuri

Admissions Apply Now