Karachi Genetic Disorders Linked to Cousin Marriages Account for 90% of Cases in Children

Karachi: Dr. Misbah Hanif, an expert in clinical genetics at Dow University of Health Sciences, highlighted the significant genetic risks associated with cousin marriages during a seminar. She stated that a substantial percentage of genetic disorders in children can be traced back to these marriages.

According to Dow University of Health Sciences, Dr. Hanif, speaking at the “Introduction to Medical Genetics” seminar organized by the Professional Development Center, emphasized the high prevalence of cousin marriages in Pakistan. She estimated that 90% of half of the genetic disorders in children result from these unions. The seminar also featured key insights from Professor Ammarah Jamal and Dr. Amber Kamran, who are deeply involved in pediatric studies and cardiology respectively. Dr. Hanif explained the complexity of diagnosing genetic disorders, which often involves identifying chromosomal abnormalities through various techniques including Karyotype, FISH, PCR, microarray, and NGS.

She outlined the challenges Pakistan faces in this field, such as limited resources, a shortage of trained professionals, and significant cultural and religious barriers that complicate discussions around genetic issues. Dr. Hanif presented several case studies from her clinical experience, including disorders like Turner’s syndrome, Williams’s syndrome, Huntington syndrome, Werner syndrome, and a newly diagnosed ACPHD syndrome due to a single gene mutation. These examples illuminated the diverse manifestations and profound impact of genetic disorders on individuals and families.

Under the leadership of Vice Chancellor Professor Muhammad Saeed Qureshi, Dow University is establishing a pediatric genetic clinic to provide free counseling and has set up a laboratory to enhance research and support for affected families. Dr. Hanif also mentioned the educational efforts at Dow University, where teaching genetics in the final years of the MBBS program is preparing a new generation of medical professionals to handle the upcoming challenges in genetics.