MED25 and intellectual disability: from the backlands to the forefront of science

The practice of Genetics in areas of low human development index is not trivial. This manuscript tells a success story which combines training family health agents to pinpoint large consanguineous families with several individuals with deficiencies, conducting field medical evaluation in remote areas of Brazil and finalizing by state-of-art technology for linkage and high-throughput sequencing, performed in more developed centers of the country. This mix of barefoot medicine, good clinical skills and high yield molecular biology and bioinformatics allowed the identification of MED25 as another gene involved in autosomal recessive intellectual disability (ID). MED25  codes for one of the more than 30 subunits of Mediator Complex, who plays a critical role in controlling synthesis of messenger RNA; other members of the “club MED” have been already associated to ID.

 

There is a narrow window of opportunity for this type of study, since a large change in demography is already underway in Brazil. As families are becoming smaller and consanguineous unions less frequent, we should hurry and go back to the backlands! (By MSc Thalita Figueiredo, http://jmg.bmj.com/content/early/2014/12/19/jmedgenet-2014-102793 )

Figueiredo

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