THOC2

Judging from how persons with disabilities (PWDs) in Moldova can still study, defend themselves, and live independently, the UN Convention on the Rights of Persons with Disabilities (CRPD) reported that the said country ’has made significant strides to further advancing the rights of children and adults with disabilities in the country’. Its education system has become more inclusive and community-based services have been developed.

Many, however, continue to be denied the support they need to be fully included in the Moldovan society. Many processes regarding the educational system and community-based programs are far from complete, too. In particular are the 1,716 children with mental or intellectual impairments that remain in segregated educational institutions. Not all of them are receiving support they need to access inclusive schooling.

About 3,000 to 4,000 Moldovans are ‘stripped of the right to decide for themselves, and are under the control of guardians’. Many were reported to be leaving PWDs in closed institutions against their will, using the disability allowances of the latter, controlling their assets, and prohibiting them from basic socio-legal acts.

The PWD Forum could only hope that the finding of Dr. Raman Sharma from the University of Adelaide’s Robinson Research Institute will lessen cases of intellectual disability. Together with some researchers from Europe, he has discovered the “novel gene,” which when mutated, causes intellectual disability in 1 in 50 individuals.

“We have identified four mutations in the THOC2 gene in four families. The defected gene is found in males who have an intellectual disability – females in the families are carriers of the gene mutation but are not affected by the condition. Protein coded by the THOC2 gene is part of a large protein complex that is fundamental for all living human cells and essential for normal development and function,” Dr. Sharma, lead author of the paper, was quoted in the American Journal of Human Genetics.

To date, Dr. Sharma is poised to know more about familial gene mutations.

“But that’s just the first step. Before we can develop a treatment for a condition, we first need to understand what is going on in the body and discover how a specific defected gene causes a particular disease.”

“Advanced genetic technologies have accelerated the discovery of genes responsible for diseases like epilepsy, autism, intellectual disability and other neurological disorders. But the number of genetic conditions in which we have functional understanding of the mutated genes can be counted on two hands.”

Video taken from the YouTube Channel of the Biology Videos

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