‘Prevalence of genetic disorders much higher in Pakistan than West’

Islamabad : National University of Medical Sciences (NUMS) and University College London (UCL), England have joined hands to work on the genetic neurological disorders which would help the affected families and advise others not to go for cousin marriages to avoid the possibility of genetic diseases in future generations.

Dr. Sara Mumtaz from the NUMS Department of Biological Sciences (NDBS) is conducting research on inherited neurological disorders in Pakistan in collaboration with Dr. Henry Houlden, Professor of Neurology and Neurogenetics, from Queen Square Institute of Neurology, UCL, England.

An estimated 29 million people in Pakistan are suffering from genetic disorders attributed to cousin marriages.

Prof Houlden met Lt Gen Wasim Alamgir, the Vice Chancellor NUMS, Maj Gen (r) Saleem Ahmad Khan, Pro Vice Chancellor Academics, Dr. Aisha Mohyuddin, Dean Multidisciplinary Sciences, Dr. Jawad Hassan, Head of Department, NDBS and the faculty members of the section of Human Genetics, NDBS and discussed ways to further promote cooperation between the two institutions.

Prof Houlden was in Pakistan to attend a neurological conference and was specially invited by NUMS to deliver a lecture at its PWD Campus.

His visit was part of the ongoing collaboration between NUMS and UCL about the project on Clinical and Molecular Analysis of Inherited Neurological Disorders in the Pakistani population.

He gave a talk on the clinical and genetic aspects of neurological disorders to the faculty members of the NDBS.

He referred to different molecular methods that were being used in the diagnosis of disorders.

He added that he would send the report of each case after molecular diagnosis so that his work could be used for the benefit of family and patients.

Dr. Sara Mumtaz said the prevalence of genetic disorders was much higher in Pakistan as compared to Western countries.

One adverse outcome of cousin marriages in our population is that it allows expression of recessive mutations in families, she added.

She said the most effective way to prevent the health hazard was to educate people to avoid cousin marriages, particularly in cases where a non-communicable disease is already present in one of the family members.

With the advancement in science and technology, it has become possible to study the development mechanisms of these disorders, at the molecular level for the proper diagnosis, treatment, and management of genetic disorders.

The combination of genetics and functional cell biology is a particularly powerful approach for understanding genetic diseases and their pathological processes.

The analysis of DNA, RNA and protein interactions has become central to genetic research.

Dr. Sara Mumtaz said it was likely that the next 10 years would see the development of treatments for human diseases based on these advances.

The number of laboratories that are working on genetic disorders and particularly neurological genetic disorders within Pakistan is limited.

Hence there is a need to promote research in these areas.

Families with neurological problems were invited for clinical evaluation by Prof. Houlden.

Blood samples and skin biopsies were collected from these families.

In the next step of the study, DNA and RNA of the patients and their families will be analysed to find out molecular cause of diseases found in these families.