Experts highlighted that Pakistan is one of the leading countries for cousin marriages in the world, resulting in genetic diseases because genomic disorders are the result of gene mutations. The workshop was organized by Dow University’s College of Biotechnology at Dr. Abdul Qadeer Khan Auditorium, Dow International Medical College.
In his address, Vice Chancellor Vice Chancellor Dow University of Health Sciences Professor Muhammad Saeed Quraishy stated that Pakistan is among the countries where consanguineous marriages are common. According to estimates, on average, 65% of marriages are cousin marriages however in some ethnic groups it could be as high as 85%.
The Vice-Chancellor highlighted that the high rate of marriages within families could be due to cultural, social, business, and political reasons, and may have biological benefits as well. However, continuous marriages within families can lead to various recessive and dominant genetic disorders in children.
He welcomed the guests from Sweden who presented their research on genetic disorders, hoping that their expertise would help treat genetic disorders in Pakistan. Professor Stylianos E. Antonarakis from the University of Geneva shared that the known number of recessive disease genes is 2,980, but the number of unknown recessive disease genes could be between 8,000 and 9,000.
He mentioned that the Human Genome Project started on October 1, 1990, and was nearly completed around 2002. He highlighted that newborns have 50 to 100 new mutations not present in their parents. He discussed chromosome 21, the smallest chromosome, and presented a book to the Vice Chancellor that measures its weight and length.
He explained that genomic variability offers opportunities for evolution, but genomic disorders are the cost of evolution or adaptation. He reiterated 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. Furthermore, he elaborated on a protein-coding gene-phenotype that had one mutation in 1980, which increased to 5,289 mutations by 2024.
He predicted this number could reach 1,000 dominant and 7,000 recessive mutations in the coming years. He also mentioned that 10% of marriages worldwide occur within families, which has many benefits but also genetic drawbacks. Marriages between first cousins contribute to each spouse carrying 55 rare homozygous variants, increasing the likelihood of genetic disorders. Assistant Professor Ambrin Fatima from Aga Khan University discussed genetic disorders in Pakistan.
She highlighted that Pakistan ranks at the top in cousin marriages, especially among Islamic countries. She noted that the prevalence of various genetic disorders in Pakistan is high, such as the carrier frequency of thalassemia, which is 6%. Additionally, Pakistan has the highest number of microcephaly cases (children with smaller heads relative to body size).