PESHAWAR: The local researchers have discovered the prevalence of a genetic ailment in four persons of same family in Swat for first time in Khyber Pakhtunkhwa.

They have recommended establishment of screening centre and facilities for counselling of the would-be couples to prevent the ailment, which can render the victims mentally retarded. Intra-family marriage is the main cause of the rare ailment, according to the researchers.

The two-year study, conducted at Centre for Omic Sciences Islamia College Peshawar from 2018 to 2020, found that four members of a family had Aubert syndrome type 9, one of the 36 sub-clinical types that cause lack of intellectual and speaking disability due to under-development of brain.

According to findings of the study, the disease is hereditary and can be prevented through pre-marriage screening and putting in place facilities to help the affected people.

Researchers recommend setting up of screening centre for would-be couples

Brain MRI is required to diagnose the disorder. It reveals mid brain in a form of a “molar tooth”, which is regarded as a clinical diagnostic parameter for this disease.

The affected patients abandon their expressions capability, according to the research initiated by Maria Said, an MPhil scholar Genetics in 2019, who died of brain hemorrhage in April 20. Other members of her team completed the task and get the research published at Journal of Gene Medicine, UK last month.

It shows that most of the Pakhtun families prefer intra-family marriages which can be the prime cause of this rare genetic disorder.

To discover the genetic neuroglial disease, which has not been reported from Khyber Pakhtunkhwa before, next generation sequencing and data analysis method was used. It is an efficient and economic approach towards genetic diseases diagnosis in DNA laboratories.

The analysis covers sequencing of 24,000 functionally known genes of human genome, which has potentially contributed to reach out the results.

The team of researchers included Dr Mohammad Ismail Khan of zoology department; Dr Musharraf Jillani of Centre for Omic Sciences, Islamia College Peshawar; and Maria Saif (late), Hilal Ahmad and Mohammad Ibrar Khan, the MPhil scholars in Genetics; Dr Mohammad Latif and Dr Mohammad Imran Naseer from Saudi Arabia; and Dr Harz Mohammad Jafar Hussain from China.

The team is determined to reducing the burden of disease through formal education, awareness and community services along with efforts to establish screening centres but lack of funds is big hurdle to materialising the dream.

Since the establishment of Omic centre four years ago, there has been no funding for it. The study was carried out by team of researchers from their own resources.

One of the researchers said that Joubert syndrome is a heterogeneous disorder characterised by developmental delay, intellectual disability and abnormal eyes movements.

The people living in remote areas with less or no access to medical facilities are difficult to be diagnosed clinically. The people of the area where cousin marriages are more frequent are vulnerable to the disease.

The researcher said that efficient and accurate genetic testing was helpful for patient management and reducing the disease risk through counseling.

“There is no specialised clinic in Pakistan to deal with such diseases. Establishment of screening centre along with scaling up awareness level regarding intra-family marriage is important,” he added.

Published in Dawn, October 1st , 2020