A team of researchers at the Department of Medical Genetics, Kasturba Medical College (KMC), led by Girisha K.M., Head, Department of Medical Genetics, has discovered a rare disease affecting bone growth in children.
A press release issued by the Manipal Academy of Higher Education (MAHE) here on Friday said that in this rare disease affecting bone growth in children, the condition decreases the height of the individuals by abnormal development of bones.
The team also found the genetic basis of this condition.
The work has been published online in the journal, Human Mutation published by Wiley, the U.S.
Giving details of the discovery, Dr. Girisha 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.
The clinical genetics team of experts at Manipal could not identify any known genetic condition. Hence, they started to look for yet unidentified cause of this condition.
Exome sequencing
“The team used a technique called exome sequencing that analyses all the genes in an individual,” Dr. Girisha said.
The clinical team was assisted by Neethukrishna Kausthubham as bio-informatics expert and Srilakshmi Bhavani at Manipal looking into the mechanisms of the disease and correlating with the children’s condition.
Assistance
Once the team identified the gene, they were further assisted by a German team comprising Kerstin Kutsche and Leonie Von Elsner. Further experiments were conducted on cell lines and mechanism of disease was elucidated.
The overall work had inputs from Geert Mortier from Antwerp University in Belgium.
The research spanned over three years.
Pragna Rao, Dean KMC, Manipal said that the German and the Belgian partners were visiting professors at Kasturba Medical College.
She added: “The experiments also suggest that this condition is potentially amenable to treatment.”
H. Vinod Bhat, Vice Chancellor, MAHE, said: “This work illustrates our commitment to foster collaborations with international universities to take MAHE to the global level in research.”
