A team from the the Clinical Genetics department of Kasturba Hospital has made the discovery of a gene which may be likely causing a genetic disorder of bone. This is the second such discovery by the team. The team was lead by Dr Girish Katta.
The study identified a child with a bone disorder called ciliopathy. Dr. M Dayananda, Medical Superintendent and COO, Kasturba Hospitals said the 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).
Dr Girish added that more patients and functional studies will prove this discovery of theirs convincingly. 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.
