Rawalpindi: The cycle of cousin marriages is one of the causes leading to neurodevelopmental disorders among children which have emerged as a daunting challenge for the affected families in Pakistan, said scientists of National University of Medical Sciences (NUMS) here on Sunday.
The cycle of family marriages with cousins is leading to an ever-increasing burden of neurodevelopmental disorders. “These disorders present lifelong clinical challenges including deficits in learning, speech, memory, and mobility putting great emotional and financial burden on families and society,” said Dr.Tahir Khan, who is leading the research project with Dr. Humayoon Satti.
Both the scientists are working on a Higher Education Commission’s (HEC) funded Rs15 million project to find causes of neurodevelopmental disorders in children, born out of cousin marriages in our society. Under its ‘National Research Programme for Universities’ HEC gives funds for encouraging research in universities and NUMS was awarded this project following a country-wide competitive process.
The human genome is made up of DNA sequences that contain all the information for our body structure and function. Changes in this DNA sequence called mutations can have adverse effects and may lead to abnormal function of our natural biochemical processes and consequently to disease, he said.
The proposed project is aimed at identifying the mutations underlying neurodevelopmental disorders and then explore the mechanism by which mutations affect other biological processes leading to abnormal phenotypes, he added.
To achieve these goals, we will first identify mutations by sequencing all protein coding part of the patients’ genomes and then test the pathogenicity of specific mutations in zebrafish embryos and mouse models,” said Dr. Tahir Khan.
He said the results of the experiments ‘will inform us of previously unknown disease mechanisms that can ultimately lead to better disease understanding and therapeutic interventions. “The disease causing mutational data generated in this project will be helpful in genetic counselling of patients and their families and screening of individuals at risk,” he added.