At JSCD we consider it our duty to expand the frontiers of human knowledge to help build a better future for our children.That’s why our researchers travel deep into rural Pakistan, finding out how we can provide better medical care to our people.That’s why some of the most cutting edge genetics research in the country takes place in our labs.

Genetic Research

JSCD scientists and doctors work in collaboration with researchers at the University of Leeds and University of Cambridge (UK) to find the gene locations of conditions such as Thalassaemia, microcephaly and other disorders that are commonly found in Pakistan. We have already located five critical genes that carry common disorders. Thanks to our work, Pakistani parents in future will be able to avail genetics counseling and find out how they can avoid passing disorders on to their unborn children.

Locating the genes that cause conditions such as Thalassaemia and Cancer

Major Publications

JSCD’s genetics research has been published in the top refereed journals in the field. Recent articles include :

• An SCN9A channelopathy causes congenital inability to experience pain. Nature 2006
• Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate gene. Eur J Hum Genet 2006
• MORM syndrome (mental disorder, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Eur J Hum Genet 2006
• A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 2005
• The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet 2005