Pakistan News

Researchers detect rare genetic disorder in Mohmand siblings

PESHAWAR: The Islamia College researchers have detected a rare genetic disorder in four minor members of a Mohmand tribal family and asked the government to set up labs for molecular diagnostics and make disease screening obligatory for cousin marriages to ensure healthy life for the children of such couples.

According to them, the disease has been reported for the first time in the country.

Dr Musharraf Jelani, director at the Centre for Omic Sciences, Islamia College, led the Rare Disease Genetics and Genomics Research Group, whose study was published by the American Journal of Medical Genetics Part A (AJMG-A) lately.

The researchers examined DNA of four siblings, including three girls and one boy, who were aged 10, 12, 13 and 17 years, and were bed-ridden and unable to eat, drink, stand, speak, listen or pass urine without the support of parents.

Call for premarital disease screening, molecular diagnostic laboratories

According to them, the children’s parents belonged to Mohmand tribal district, were cousins and lived in Peshawar. One of their children had died in infancy, while the remaining four had mental and physical weakness by birth with history of no treatment.

The researchers, including Dr Attaullah Khan, Ibrar Khan, Dr Mohammad Ismail Khan, Dr Mohammad Latif, Dr Mohammad Imran Siddiqui, Dr Shafiullah Khan, Dr Thet Thet Htar, Dr Ghazala Wahid, Dr Ikramullah, Dr Fehmida Bibi, Dr Asifullah Khan, Dr Mohammad Imran Naseer and Dr Go Hun Seo, said investigation into such disorders weren’t common as diagnostic facilities weren’t available in medical colleges and teaching hospitals.

In the study, they said future generations could be prevented from genetic disorders if the government established molecular labs for premarital DNA testing and allowed marriages only to the people, whose DNAs didn’t carry such problems.

The researchers said usually, cousin marriages resulted from the same change in parental DNA but Pakhtuns had complex ‘admixture’.

According to them, though parents in question were cousins, the children’s father and mother carried different mutations.

The researchers said cousin marriages were allowed in Islam and were socially acceptable but disease screening before marriage would enable the would-be couples to know about the vulnerability of their children to disorders.

They said medical genetics and molecular diagnostics were done in complicated cases for which facilities weren’t readily available, so the government’s patronage could help prevent birth of children with disability.

The researchers said the basic aim of their study was to perform molecular diagnostic of the family in question and involved sequencing of 24,000 human genes, clinical investigations, and relevancy of the DNA mutation to the patients clinical signs and symptoms.

Dr Musharraf Jelani told Dawn that he had been working on genetic disorders for 15 years.

He said genetic diseases were medically curable with most of their treatments being in preliminary and testing stages.

The director said funds were required to set up labs for molecular diagnostics and discourage marriages, which can cause genetic disorders in children, and scale up its awareness at the community level.

Published in Dawn, August 9th, 2022

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