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KMC Medical Genetics team discovers rare bone disorder

KMC Medical Genetics team discovers rare bone disorder


Mangalore Today News Network

Mangaluru, Dec 15, 2018: Researchers from Department of Medical Genetics, Kasturba Medical College (KMC)-Manipal have discovered a rare disease affecting bone growth in children.  The team was led by Dr Girisha K M, Professor and Head Department of Medical Genetics.


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The condition decreases the height of individuals by triggering abnormal development of bones. The team also found the genetic basis of this condition. The work was published online in the renowned peer-reviewed journal, Human Mutation, published by Wiley, USA.

Sharing details of their discovery Dr Girisha said, “Two patients from two different families were referred by child specialists when they noticed that the children were not gaining height as compared to other children of similar age."

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 yet unidentified cause of this condition.

“The team used a state-of-the-art technique called Exome Sequencing that analyzes all the genes in an individual,” Dr Girish said.

The clinical team was assisted by Neethukrishna Kausthubham as a bioinformatics expert and Dr Srilakshmi Bhavani at Manipal looking into the mechanisms of the disease and correlating with the children’s condition.

Once the team identified the gene, they were further assisted by the German team comprising Dr Kerstin Kutsche and Dr Leonie Von Elsner.

Further experiments were conducted on cell lines and mechanism of disease was elucidated. The overall work had inputs from Dr Geert Mortier from Antwerp University in Belgium. The research spanned over three years.

Manipal Academy of Higher Education (MAHE) Vice Chancellor Dr H Vinod Bhat said, “This work illustrates the University’s commitment to foster collaborations with international universities to take MAHE to the global level in research.”

The German and Belgian partners are visiting professors of KMC, said KMC Dean Dr Pragna Rao.

She added, “The experiments also suggest that this condition is potentially amenable to treatment.”

Pro Vice Chancellor Dr Poornima Baliga congratulated the genetics team, which has already contributed to the discovery of many rare conditions..


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