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 |