PESHAWAR: Researchers have expressed concern about the prevalence of rare diseases in Khyber Pakhtunkhwa and urged the government to establish a centre for the pre-marriage screening of the people for genetic disorders.

During a health awareness seminar at the Centre for Omic Sciences of the Islamia College University here on Tuesday, they insisted that many children had been diagnosed with inborn genetic diseases, including epilepsy, microcephaly, neuro-developmental, skin and eye disorders, hearing loss, and neuro-muscular skeletal problems.

Demand pre-marriage screening centre for genetic disorders

Vice-Chancellor of the Islamia College University Prof Gul Majid Khan, who was the chief guest at the event, said there was a need for scaling up public awareness of the causative agents of the rare diseases and persuading families to ensure pre-marriage screening testing of its members for them to prevent such disorders, which affected children at an early age.

“We [Omic sciences centre] are doing well despite having no specific funds and need the government’s support for the centre to save people from avoidable medical problems,” he said.

The vice-chancellor said the centre’s teams were collecting community-based data for interventions along with partner organisations and national and international level to address the issue.

“In Europe, a disease is considered rare if it affects one in 2,000 live births. Such disorders are mostly genetic. We want collaboration to expedite research on them,” he said.

Prof Gul Majid said Pakistan was home to more rare diseases than other parts of the world due to family marriages and that the disease cycle went on for several generations.

Assistant Professor of the ICU zoology department Dr Mohammad Ismail Khan said the centre had diagnosed rare diseases in 200 families living in different districts of the province.

He said if marriages in the same community took place from one generation to other, then the faulty DNA could combine in a person causing inability to produce normal proteins or enzymes for normal cellular functions.

“In such cases, both parents are normal but their several children inherit the affected DNA causing abnormal development,” he said.

Dr Ismail said 300 million people had rare diseases and 72 per cent of those disorders were genetic affecting children in early age.

“Our team working on rare disease genetics and genomics in Khyber Pakhtunkhwa has discovered a gene for neuro-developmental and skin pigmentation disorders. This gene was first reported in the world,” he said.

COS director Dr Musharraf Jelani said the centre had detected genetic disorders in four members of a Swat family two years ago for the first time in Khyber Pakhtunkhwa.

He said a study conducted at the centre (2018-20) found those family members with Joubert syndrome type 9, one of the 36 sub-clinical types, which caused intellectual and speaking disability due to under-development of brain.

Dr Jelani said a screening centre and counseling facilities were required for would-be couples to control genetic disorders, which render victims mentally retarded.

He said intra-family marriages were the main cause of such rare problems.

Assistant Prof Qaiser Zaman of the Government College Dargai, Malakand, also spoke on the occasion.

Published in Dawn, March 2nd, 2022