Karachi: Pakistan is in the grip of a silent epidemic of rare and genetic disorders, with experts estimating that between 7 and 13.5 million children are suffering from these conditions — making them a major cause of the country’s alarmingly high infant mortality rate, nearly half of which is linked to genetic diseases.
The warning came at the 1st Rare and Genetic Diseases Summit 2025, organized by the Society for Novel and Rare Diseases (SNARE) in Karachi, where national and international specialists joined hands to expose the scale of a health crisis few talk about.
Prof. Javed Akram, Founding President of SNARE, said Pakistan’s staggering burden of rare disorders is rooted in generations of consanguineous marriages. “Sixty percent of marriages in Pakistan are between cousins — 80 percent in KP, 70 percent in AJK. Generations of inbreeding are producing an epidemic of genetic disease. These are not rare in Pakistan; they are everywhere. Yet 99 percent of doctors fail to diagnose them, treating only symptoms. That is quackery,” he said.
Prof. Akram, known internationally for managing the case of Pakistan’s “Solar Kids” — siblings with a mysterious genetic condition — warned that rare neurological disorders, cancers, congenital heart defects, epilepsies, intellectual disabilities, and sensory diseases were all common in the country but mostly invisible. “Medicines for these conditions are not available as they are orphan drugs. Families suffer in silence, losing multiple children without answers,” he added.
Prof. Masood Sadiq, Vice Chancellor of the University of Child Health, Lahore, said congenital heart defects were among the most visible outcomes of inbreeding. “One in every 100 Pakistani children is born with a heart defect. Cardiomyopathies are also common. Our estimates suggest at least seven million children are suffering from rare genetic disorders, yet Pakistan has no national center for diagnosis and treatment,” he said. He called for nationwide neonatal screening and investment in specialized centers.
Prof. Huma Cheema, a leading pediatric gastroenterologist, described the problem as a “silent epidemic” destroying families. “Consanguinity is a major driver. Thousands of families lose multiple children without knowing the cause. Awareness campaigns, genetic counseling, and early screening are the only way forward,” she said.
The Vice Chancellor of the Health Services Academy Prof. Shahzad Ali Khan said the country’s health system was failing to respond. “Half of our newborns are dying due to undiagnosed rare and genetic disorders. We need urgent advocacy against consanguinity, training of doctors, and expansion of diagnostics. Institutions must generate resources and take ownership. At HSA, despite just Rs. 5 million in state funding last year, we raised Rs. 6 billion from donors and expanded our programs,” he said.
Prof. Zia ul Haq, Vice Chancellor of Khyber Medical University Peshawar, called for more research and advocacy on cousin marriages, particularly in KP where the prevalence is highest. He hailed the creation of SNARE as “a landmark step to break the silence around an invisible epidemic.”
The inaugural session, moderated by Prof. Somia Iqtidar and opened by Prof. Aftab Mohsin, also heard from Prof. Sajid Maqbool, Prof. Muhammad Ali, Prof. Ahsan Waheed Rathore, Prof. Shabir Ahmed Lehri, Prof. Shahzad Ali Khan, and Prof. Moazzar Rahman, who pledged their institutions’ support to SNARE’s mission.
Experts agreed that Pakistan’s rare diseases burden is among the heaviest in the world, yet remains undiagnosed, untreated, and largely ignored. Without action on awareness, genetic counseling, neonatal screening and access to orphan drugs, they warned, millions of Pakistani children will continue to die from preventable genetic causes.
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