Manipal Geneticists discovers gene likely causing a genetic disorder

Manipal Geneticists discovers gene likely causing a genetic disorder

Mangalore Today News Network

Manipal, Mar 21, 2016:  The Clinical Genetics department of Kasturba Hospital has made the discovery of another gene likely causing a genetic disorder of bone. The team lead by Dr Girish Katta identified a child with a bone disorder called ciliopathy. This is the second such discovery by the team.


Dr M Dayananda, Medical Superintendent and COO, Kasturba Hospitals said a child had visual problems, small hands and short stature. Clinically, a disorder affecting the cilia, a small organelle in the cells was suspected.

The team performed exome sequencing in the family. Bioinformatic analysis was performed and a genetic defect in a gene that is critical for intraflagellar transport (IFT52). "More patients and functional studies will prove our discovery convincingly" added Dr Girish. The article is now published online in Clinical Genetics (journal). The German colleagues performed the bioinformatics analysis.


Dr Vinod Bhat said: There has not been sufficient studies taking place in the research front, especially in Medical and Clinical Genetics . Dr Bhat reiterated the stance of Manipal University in encouraging the research activities across all the disciplines.


Dr Dayananda said: This follows their recent discovery of EXOC6B gene recently. Genetic Services is to - either help those affected by it or those who are at a risk of a genetic disorder - to live and have children as normally as possible.