Research Areas

Human Molecular Genetics

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Keratoderma (Skin Disorder)

Keratoderma’ is a term used for marked epidermis thickening in skin. Skin become hornlike. It is a heterogeneous group of disorders defined by the presence of focal or generalized thickening of the skin of palm and soles. Inherited keratodermas can be subdivided based on the mode of inheritance, presence of other ectodermal and non-ectodermal findings, and specific genetic and molecular markers. This lab is working on the different types of keratoderma. We aimed to determined the mode of inheritance, molecular basis and mutation in the responsible gene.


This is a disease that develops when the body attacks its own hair follicles (where hair grows from), which can cause hair loss anywhere on the body. air typically falls out in small, round patches about the size of a quarter, but in some cases, hair loss is more extensive. Most people with the disease are healthy and have no other symptoms. The course of alopecia areata varies from person to person. Some have bouts of hair loss throughout their lives, while others only have one episode. Recovery is unpredictable too, with hair regrowing fully in some people but not others. There is no cure for alopecia areata, but there are treatments that help hair grow back more quickly. There are also resources to help people cope with hair loss. Ttherefore, this lab aimed; • To identify the clinical and genetic factors underlying alopecia in Pakistani population. • To investigate the mutations/polymorphisms associated with the susceptibility to alopecia. • To provide genetic counselling to the affected families in order to reduce the burden of alopecia

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Dental disorders

Recently, human genetic studies are trying to understand molecular and cellular mechanisms that control the development and dental pathology. Congenital dental disorder include lack of one or more teeth is the most frequent in humans. Some types include hypodontia missing 1–6 teeth (excluding molar 3), oligodontia - more than 6 (excluding molar 3), Anodontia, complete absence of teeth and it is very rare. Therefore, we are studying inherited disorder of teeth including small size teeth, irregular arrangement, doubling, tripling, different coloration of parament teeth. We have observed in our studies patients with very small numbers of teeth e.g. having only 3 teeth or growing only 15,16 teeth. Similarly, 6, or 7,8 teeth in lower jaws and 8, or 9, or 10 teeth in upper jaws.