BENGALURU: A team of researchers at the Department of Medical Genetics, Kasturba Medical College (KMC), Manipal has discovered a rare disease affecting bone growth in children, which decreases the height of individuals by an abnormal development in their bones.
The work has been published online in the renowned journal, Human Mutation published by Wiley, USA.
Dr Girisha KM, Professor and Head of the Department of Medical Genetics, KMC, said, “Two patients from two different families were referred by child specialists when they noticed that the children were gaining height slowly as compared to other children of similar age.”
Dr Pragna Rao, Dean, KMC, said, “The experiments also suggest that this condition is potentially amenable to treatment.” The genetics team has already contributed to the discovery of nearly 15 new disorders.
The clinical genetics team of experts at Manipal comprising Dr Girish Katta and Dr Anju Shukla, initially could not identify any known genetic condition. Hence, they started to look for an unidentified cause of this condition. “The team used a state-of-the-art technique called exome sequencing that analyses all the genes in an individual,” Dr Girish said.
The clinical team was assisted by Neethukrishna Kausthubham, a bioinformatics expert and Dr Srilakshmi Bhavani from Manipal to look into the mechanisms of the disease, and relate with the children’s condition. Once the team identified the gene, they were further assisted by a German team comprising Dr. Kerstin Kutsche and Dr Leonie Von Elsner.
Further experiments were conducted on cell lines and the mechanism of the disease was elucidated. The overall work had inputs from Dr Geert Mortier from Antwerp University in Belgium. The team said that the research spanned over three years.