Zafar Iqbal

Iqbal, Zafar
Mr. Zafar Iqbal 

PhD Candidate



Zafar Iqbal is a PhD student at the department of human genetics, in a group of Prof. Hans van Bokhoven. Since 2008 he has been working on two projects: 1. Elucidation of the genetic cause of Frank-ter Haar syndrome. 2. Mapping and elucidation of the genetic defects in autosomal recessive intellectual disability. Project 1 has been successfully finalized. Upon homozygosity mapping a locus was identified for Ter Haar syndrome (THS), which involves skeletal dysplasia, heart defect and glaucoma. Subsequently, the causative gene SH3PXD2B was identified by detecting homozygous mutations in 7 families. Finally, through collaboration with an group from the US, we have been able to study the phenotype of a mouse with a mutation in the orthologous gene. This mouse model had striking defects that were highly reminiscent of THS. He has given an oral presentation about this topic at the annual meeting of the European Society of Human Genetics, Gothenburg 2010. Moreover, on this manuscript he has won the prestigious travel award from American society of human genetics. Project 2: Homozygosity mapping was conducted in a number of Pakistani families with multiple cases of apparently autosomal recessive intellectual disability (ARID) using Illumina 6K or Affymetrix , 250K and 1 Mb SNP arrays. In most families 1 or more homozygous loci were detected. The number of candidate genes in most other families is too large to test on a gene-by-gene basis. Therefore, he has started to use massive parallel sequencing of all genes from the homozygous regions as well as by whole-exome sequencing. However, potential causative homozygous mutations have been identified in a number of new genes. These new candidate ID genes are currently being validated by testing these genes in additional families and by conducting functional analyses in different cellular and animal models. It is to be expected that his research will reveal several new ARID genes in coming months. 

National & International Personal Prizes & Awards

  • 2010 Trainee Research Semifinalist Award, by the American Society of Human Genetics 
  • HEC Overseas PhD Fellowship with Research Grant, awarded by Higher Education Commission (to Pursue PhD studies in Netherlands), Islamabad (2008), Pakistan.

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