Gene causing inherited brain disorder identified

A global team of 16 researchers, including doctors from two city hospitals, has identified the gene that causes an inherited brain disorder leading to delayed development of parts of nervous system.
The DARS gene was diagnosed during treatment of a four-year-old boy from Punjab, along with nine other children from around the globe simultaneously.
DARS causes hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL), an inherited brain disorder which leads to delayed development of parts of nervous system due to which patient becomes unable to sit and walk without support.
The team, that included Dr IC Verma, Director, Centre for Medical Genetics of Sir Ganga Ram Hospital and Dr Monica Juneja, Department of Pediatrics of Maulana Azad Medical College, was led by Dr Ryan Taft of University of Queensland.

Verma explained that disease occurred due to hypomyelination in the brain stem and spinal cord.
"This occurs when individuals do not have enough 'myelin', the substance that coats nerve fibres and enables the transmission of electrical impulses in the nervous system, hence leading to delayed response of nervous system," he said.
Using 'whole genome sequencing' technique, the team found that these children were suffering from a defect in a gene, which was previously not associated with any other human disease.
When asked about importance of the study, Verma said since the ailment is linked with inheritance of particular gene from parents to kids, discovering the causative gene will help in providing genetic counselling to families that will ensure the delivery of a normal child.