Genetic Diseases Research Lab


The scientists at the CEMB have been working for the last 20 years in the field of Genetic Diseases. 3500 consanguineous families with the history of Genetic Disorders including Hearing Impairment, Vision impairment and Intellectual Disability have been enrolled. So far, this group made assive progress in the identification of gene  identification, which has led to discovery of 26 new autosomal recessive non syndromic hearing loss loci, one novel deafness modifier gene, 25 new loci and 21 novel genes for vision impairment and 52 novel genes for Intellectual Disability in Pakistani population. This research has been published in 225 research articles in high impact factor International Peer Reviewed Journals.
Hearing is a well-developed sensory system that is structurally complex. Hearing impairment group since its inception has focused on the characterization of recessive syndromic and non-syndromic deafness in Pakistani population. Vision Impairment Lab has focused on the molecular characterization of Congenital Cataract, Retinitis Pigmentosa, its related retinal degenerations and Congenital Glaucoma in Pakistani population. Intellectual disability (ID) is a common neurodevelopmental disorder with an onset of cognitive impairment before the age of 18 years. This group uses a genetic approach to identify the key molecules involved in ID.
Clinical finding (Phenotypes), Identification of genetic loci and genes involved will enhance our understanding of the genes function at a molecular level, leading to better genetic counseling, family screening and possible future development of better treatment in all the above stated disorders.

Research Objectives

  • Identification of gene mutations cause a particular genetic disease.
  • Find out the disruption in cellular pathways due to the altered proteins resulting in the onset of the disease.


Group Composition

Prof Dr S Riazuddin
Dr Asma Ali Khan           
Dr Muhammad Asif Naeem

Doctorate Students

Ms Sidra Saeed
Ms Asima Saman
Ms Sehar Riaz
Ms Sakina Rehman
Ms Amama Ghaffar
Ms Amna Aurangzaib
Ms Tehmeena Akhtar

MPhil Students

Ms Saman Khan
Ms Areeba Manzoor
Ms Faiqa
Ms Marrium Muddassar