Profile
Human Molecular Geneticist, Disease Researcher and Educator
Dr. Asma Ali Khan received her PhD from the University of Lorraine, France, in Life and Health Sciences with specialisation in Human Molecular Genetics. She joined CEMB in 2013 as Assistant Professor in the Genetic Diseases group.
Her research focuses on identifying novel genetic mutations in autosomal recessive disorders such as hearing impairment and intellectual disability in consanguineous Pakistani families. Her thesis research characterised the extended mutational spectrum of the IL1RAPL1 and MBD5 genes using aCGH microarray, qPCR, FISH, Western blotting and Sanger sequencing.
She currently works on molecular and genetic characterisation of syndromic and non-syndromic hereditary disorders, including Perrault syndrome, and uses Whole Exome Sequencing analysis for families segregating autosomal recessive disease. She completed HEC NRPU project #2934 on hearing-impairment gene identification (worth 8.4 million PKR) and has supervised 14 MPhil and 4 PhD students as an HEC-approved supervisor.
Selected contributions
Science translated into capability
Novel gene discovery
Characterised the extended mutational spectrum of IL1RAPL1 and MBD5 genes in intellectual disability.
Completed HEC grant
Completed NRPU project #2934, "Identification and Characterization of Genes Responsible for Hearing Impairment in Pakistani Population," worth Rs 8.4 million.
Research mentorship
HEC-approved supervisor of 14 MPhil and 4 PhD students.