Human Genetics and Genetic Disorders

Khushnooda Ramzan has completed her PhD in Molecular Biology from Punjab University, Pakistan during her PhD she mapped new loci for hearing loss by whole genome wide scan, which was a first step towards the later identification of a novel gene. Currently, she works as a Scientist in the Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. After her PhD, she has joined Department of Genetics, KFSH and RC, Riyadh as Postdoc and continued working on the genetics of hearing loss in Saudi families. This led her to an unusual finding that the most common gene GJB2 responsible of hearing loss worldwide does not play a significant role in their population. Her research focus was then focused to investigate the role of other genes and to identify the novel loci/genes within the Saudi population. She has characterized and documented genetic basis of autosomal recessive deafness in more than 200 families of Saudi Arabian origin; their incidence and distribution were also documented.