Research

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

Major Publications

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration Mol Vis. Oct 2008
Prenatal diagnosis of beta-thalassaemia by chorionic villous sampling. J PMA 2007 Nov
 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007 Jul
Regional and ethnic distribution of Beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis. J Coll Ph. Surg Pak  2007 Mar
An SCN9A channelopathy causes congenital inability to experience pain Nature. 2006 Dec
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes Eur J Hum Genet. 2006 Dec
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Eur J Hum Genet. 2006 Feb
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet.2005 May
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet.2005 Feb
Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet. 2004 Aug
Protein truncating mutations in ASPM cause variable reduction in brain size Am J Hum Genet. 2003 Nov
Identification of a locus (LCA9) for Leber’s congenital amaurosis on chromosome 1p36 Eur J Hum Genet. 2003 May
Progression of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus. Br J Ophthalmol.2003 Apr
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genetics2002 Oct
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002 Jul
A new pedigree with recessive mapping to CHED2 Locus on 20P13 British Journal of Ophtha. 2001
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet. 2000 Dec
Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim country. Prenatal Diagn. May 2000
Prenatal diagnosis of haemophilia-A: a basis for the Pakistani families. J Pak Med Assoc. 1999 Oct
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet. 1999 Oct-Nov
Down’s syndrome: prospects for prevention by antenatal diagnosis. J Pak Med Assoc. 1999 Mar
Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter”. American J of Human Genetics 1998