Prof. Dr. S. Riazuddin
Founder Director
Research at CEMB
Genetic Diseases Research
For more than 20 years the lab has studied the genetics of hearing impairment, vision impairment and intellectual disability in consanguineous Pakistani families, discovering dozens of new disease genes and loci.
Laboratory overview
From biological discovery to practical solutions.
Research enrols consanguineous families affected by hearing loss, vision impairment and intellectual disability, using genetic mapping to find causal genes and mutations. Findings feed better genetic counselling, family screening and, in time, treatment for these disorders.
Hearing impairment geneticsVision impairment geneticsIntellectual disability genetics
Research programme
What the lab works on
The programme spans discovery, laboratory validation and the development of tools and formulations for real-world use.
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01
Hearing impairment genetics
Characterisation of recessive syndromic and non-syndromic deafness in the Pakistani population, identifying 26 new hearing-loss loci and a novel deafness modifier gene.
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02
Vision impairment genetics
Molecular characterisation of congenital cataract, retinitis pigmentosa and related retinal degenerations and congenital glaucoma, identifying 25 new loci and 21 novel genes.
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03
Intellectual disability genetics
Genetic approaches to identify key molecules involved in intellectual disability, contributing 52 novel genes in the Pakistani population.
Achievements
Notable outcomes
- 3,500 consanguineous families with a history of genetic disorders enrolled over more than 20 years
- 26 new autosomal recessive non-syndromic hearing-loss loci and one novel deafness modifier gene discovered
- 25 new loci and 21 novel genes discovered for vision impairment
- 52 novel genes discovered for intellectual disability in the Pakistani population
- Findings published in 225 research articles in high-impact international peer-reviewed journals
Research group
Meet the team
Contact the Director, group lead or a co-investigator directly, or reach a doctoral researcher by email.
Dr. Asma Ali Khan
Doctoral researchers
- Sidra SaeedDoctoral Researcher
- Asima SamanDoctoral Researcher
- Sehar RiazDoctoral Researcher
- Sakina RehmanDoctoral Researcher
- Amama GhaffarDoctoral Researcher
- Amna AurangzaibDoctoral Researcher
- Tehmeena AkhtarDoctoral Researcher
- Saman KhanMPhil Student
- Areeba ManzoorMPhil Student
- FaiqaMPhil Student
- Marrium MuddassarMPhil Student
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