Pakistani scientists discover 30 new genes causing mental retardation


ISLAMABAD:  A group of Pakistani researchers has discovered some 30 genes causing mental retardation in the local population, paving the way for preventive measures to reduce intellectual disabilities in the future generations.

The landmark discovery has been made by a team of 12 professors from the Shaheed Zulfikar Ali Bhutto Medical University (SZABMU) of Islamabad working in collaboration with scientists from the Netherlands and the US.


The groundbreaking research was announced by the Pakistani scientists on Tuesday. The paper has already been published in Nature’s Molecular Psychiatry – a prestigious international journal with an impact factor of 13.3.

Researchers from SZABMU, Netherlands’ Radboud University Medical Centre and University of Maryland School of Medicine had been working on the research for the past five years.

“This is a landmark discovery for Pakistan as mental retardation is comparatively high in the country owing to cousin marriages,” said SZABMU Vice-Chancellor Dr Javed Akram, who was the principal investigator from Pakistan.

The elevated level of endogamy in Pakistan has led to increased prevalence of genetic disorders, including autosomal recessive intellectual disability (ARID) with an average of 1.1 cases of severe ID and 6.2 cases per 100 live births of mild ID.

The researcher from Netherlands, who joined the press briefing via video conferencing, said the new findings further expand the existing repertoire of genes involved in mental retardation, and provide new insights into the molecular mechanisms and the transcription map of the condition.

These findings together with results expected to be released during the next eight months will have a significant role in improving the existing diagnostic procedures as well as treatment strategies especially of Molecular deafness,  said Prof Hans van Bokhovenand from Radboud university Medical Centre.

SZABMU’s Dr S Riazuddin said the aim was to help bring in new legislations for a battery of tests for postnatal screening of infants and prenatal screening for mental retardation and other hereditary diseases.

The team is also going to propose the government to make mandatory pre-marriage screening for families having genes that cause blindness, deafness and intellectual disability.

The Pakistan Institute of Medical Sciences (Pims), he said, has already registered some 3,000 such families from interior Sindh and south Punjab having such genes to consult before contracting within family marriages.

The paper published in the Molecular Psychiatry journal can be viewed at

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