In 2021 we were able to perform whole exome sequencing of more one hundred index patients with Rare Disease in Khyber Pakhtunkhwa Province. This included Limb-girdle muscular dystrophy, congenital Ichthyosis, epidermolysis bullosa, albinism, growth hormones deficiencies, microcephaly, epilepsy, intellectual disability, peripheral neuropathy, sensory neuronal hearing loss, retinitis pigmentosum, ectodermal dysplasia and hypotrichosis.
These genetic diseases might be considered rare in rest of the world, but Pakistan in general and Khyber Pakhtunkhwa in specific has high frequency of these diseases. It’s won’t be wrong if we say “Rare is Frequent”
This year, an awareness booth, a poster conference as well as presentations will be organised to celebrate Rare Disease Day. Our students will explain their research of Rare Diseases to the community.