KARACHI: Expressing concern over the high prevalence of genetic disorders in Pakistan, experts at a workshop directly linked these abnormalities to cousin marriages, noting that the frequency of this cultural and social tradition could be as high as 65 per cent to 85pc in the country.

The workshop, Genomic Disorders and Recessive Disorders, was organised at Dow International Medical College by the College of Biotechnology, Dow University of Health Sciences (DUHS).

The experts regretted that, despite being a significant public health issue, genetic disorders have not received the attention they deserve from the state or the general public.

“Pakistan is among the leading countries where cousin marriages are very common. Some estimates suggest its prevalence is up to 65pc nationally, and as high as 85pc in some ethnic communities,” said Vice Chancellor DUHS Prof Muhammad Saeed Quraishy.

The high rate of marriages within families is attributed to cultural, social, business, and political reasons and may have some biological benefits, he added. However, he cautioned that the continuation of this practice could lead to various recessive and dominant genetic disorders in children.

Presenting her research findings on genetic disorders in Pakistan, Assistant Professor Dr Ambrin Fatima from the Aga Khan University said: “The prevalence of various genetic disorders in Pakistan is high. For example, the carrier frequency of thalassemia is 6pc. Additionally, Pakistan has the highest number of microcephaly cases (children with smaller heads relative to body size). Unrecognised genetic disorders contribute to neonatal and infant mortality.”

Studies on rare genetic disorders are being conducted in Pakistan using community, clinical research, and clinical genetics models, she added.

Dr Federico Santoni from the University Hospital of Lausanne, Switzerland, highlighted that approximately 15 million premature babies are born each year and that complications from premature birth are the leading cause of death in children under five years old.

“Compared to other children, premature infants have a higher rate of long-term disorders such as lung disease, cardiac anomalies, retinopathies, and neurodevelopmental disorders like autism, ADHD (adult attention-deficit/hyperactivity disorder), and depression,” he said, outlining challenges related to these conditions and sharing findings from studies conducted in France and Greece.

In his speech, Prof Stylianos E Antonarakis from the University of Geneva shared that the known number of recessive disease genes is 2,980, while the number of unknown recessive disease genes could be between 8,000 and 9,000.

Prof Attaur Rahman, the chief guest, highlighted Pakistan’s progress in science and technology from 2000 to 2023, noting that, despite financial challenges, the country has made advancements in modern technology.

Published in Dawn, November 28th, 2024