Islamabad - A scientist at Institute of Biomedical and Genetic Engineering (IBGE), in collaboration with researchers of Europe and Singapore, has discovered a new disease in Pakistan that leads to the lifetime paralysis of the patient. The cause of the disease is interfamily marriage .
The disease coined as ‘siddiqi syndrome’ causes deafness in the patient at the age of six months and leads to a complete paralysis of the body by the age of eleven. This ‘deafness-dsytonia’ includes repetitive muscle contractions their twisting and other abnormal movements.
Dr. Saima Siddiqi of IBGE researched for eight years on a family in Pakistan in which this rare disease was found. Among the nine children of the family, five suffer from this disease . The children named Shabana, Nosheen, Adnan, Rehman and Abdullah, are of different ages. She found the family through Edhi center.
Interfamily marriages have given a unique texture to genetic landscape of Pakistan due to which diseases considered rare around the globe are found in Pakistan. A unique event at DNA level commonly known as a mutation may result in any rare diseases.
During research, patients were examined in National Hospital Singapore (NHS) to determine the clear idea of phenotype. Modern research techniques including Whole Genome SNP analysis and Next Generation Sequencing (NGS) helped researchers to identify a lethal change in the genetic code in a gene named as FITM2.
The researchers observed that the change in genetic code stopped the function of a gene that was involved in fat metabolism and energy production.
Further, experiments of fruit flies and mouse modeling produced similar results on patients thus confirming the involvement of FITM2 gene in development of the disease in patients.
Dr. Siddiqi, who is currently researching on 200 other families, said that the ratio of this disease in Pakistan would be high because of the social structure of the society.
She said that a few healthy generations in a family do not guarantee the non-transferring of the syndrome to the upcoming generation.
Dr. Siddiqi said that the expectancy rate of the disease is high in less educated and poor families.
“Lack of awareness is one of the major reasons for transferring of this disease to the next generation,” she said.
According to her, such families must be educated and encouraged for arranging the marriages of at-least one generation out of the family to reduce the chances of disease .
She added that the life expectancy and recovery from the syndrome could not yet be determined, but could be avoided by conducting premarital blood screening of the individuals before marriage .
She said that the detection of this disease reflects that the genetic evaluation process has been halted in the families, and to erase such deficiencies maximum marriages must be carried out of the family.
However, she added, the lack of facilities for the pre-marital blood screening and research on rare diseases is also an obstacle to counter the flourishing of such syndrome.
“Public hospitals do not provide the facility of premarital blood screening and the government must do something about it,” she said.
Dr. Siddiqi lamented that the government prefers to research on common diseases as compare to the rare ones.
Director IBGE, Dr. Muhammad Ismail said that there is a need of genetic counseling in the public sector hospitals to edcuate large numbers of people on such diseases.
“Cousin Marriages also need to be discouraged as it leads to the pool of defective generations,” he added.
Dr Siddiqi added, “Now this family knows that they have genetic disease running in their family and that they need carrier screening for couples. Although this diagnosis has deprived them of the hope that they can be treated immediately, it’s the start of new hope for them that one day they will have a definite treatment.”