12 professors from Shaheed Zulfiqar Ali Bhutto Medical University (SZABMU) in collaboration with scientists from US and Netherlands discovered 30 new genes that are the root of intellectual disabilities in newborns. The increasing number of cousin marriages in Pakistan is responsible for the ubiquity of genetic disorders in infants. This particular discovery can now help people prevent these disorders from happening by getting the families screened before marriages.
The vice chancellor of SZABMU commented on the matter saying,
This is a landmark discovery for Pakistan as mental retardation is comparatively high in the country owing to cousin marriages
A complete report on the newly discovered genes was published in the eminent Molecular Psychiatry journal of Nature. A press brief was also organized in which along with the scientists from SZABMU and Pakistan Institute of Medical Sciences (PIMS), professors from the Radboud University Medical Center were also present remotely. They emphasized on the importance of this groundbreaking discovery and how it can be implemented in Pakistan. The rate of people affected with Intellectual disabilities in Pakistan is hitting a new high every year. The vice chancellor of PIMS shared his concerns regarding the issue of endogamy related to Mental Retardation in Pakistan.
We have come to know that genes have been changing in some families. Although these genes can become active in any child, the risk is eight to 10 times higher in the case of marriages between first cousins
A microbiologist from PIMS, DR. Riazuddin shed light on the significance of neonatal screening and how they need to reduce the amount of hereditary diseases in Pakistan.
I have enrolled as many as 6,000 families which have had difficulties with the births of deaf and blind children. Some of the families are in interior Sindh but they have contacted us before marriage to find out if the couples’ children will be deaf or blind
He said during the press brief that the samples collected for the research of this project helped them realize that people weren’t aware of the options available for them in order to obviate intellectual disorders in their unborn babies.
After marriage, couples should consult doctors before planning to have children. The Sindh assembly passed that sort of law last year, but there is need for legislation at the centre because that is the only way the law will be implemented……They (couples) seek advice because they are aware. If we make people aware that it is in their benefit to get themselves and their children screened, they will start screening their children
Endogamy is one of the major reasons behind growing genetic disorders in infants. This pioneering piece of work in the field of Genetics and Molecular Science will help families prevent these diseases beforehand and get pre natal and postal natal screening. Professor Hans van Bokhovenannd from Radboud university Medical Center was really hopeful for an improvisation in the diagnostic procedures after the release of this report. This could also improve the research culture in Pakistan so that scientists could make more crucial breakthroughs in future.