Research on Little People of Pakistan

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Dr. Sadaf Naz is a human molecular geneticist who received her Ph.D. in Molecular    Biology from the University of the Punjab, Lahore, Pakistan for one of the pioneering studies on hereditary hearing loss. She conducted post-doctoral work at NIDCD, National Institutes of Health, USA. In 2005, she established the laboratory of human genetics at School of Biological Sciences, University of the Punjab, Lahore, where she is now working as an Associate Professor. The major focus of her research team is on exploring genetics of recessively inherited, progressive hearing loss and other rare disorders using conventional methods and next generation sequencing technology. The research in her laboratory has been supported by National Institutes of Health, USA, Higher Education Commission, Pakistan, DFG, Germany and Brigham Young University, USA. The work on exploring genetics of skeletal dysplasia is being partly funded by Growing Stronger, USA and Koshish Foundation, USA.

Below are details on the proposed research on genetics of dwarfism or little people of Pakistan

From the Laboratory of Human Genetics

School of Biological Sciences, University of the Punjab, Lahore

Pakistan

Thursday, April 4, 2013

Research Statement

It is vital to identify the responsible genes as well as their different mutant alleles in order to understand the pathogeneses of genetic disorders for ultimately identifying treatments and cures. This can shed light on important pathways which may be targets for future therapies. More than 6000 genetic defects have been described in humans. Of these at least a 1000 are recessively inherited and many more are inherited in a dominant fashion. The incidence of recessively inherited genetic disorders is especially high in Pakistan where consanguineous marriages are common. Great progress has been made on molecular characterization of some recessive disorders in Pakistan. However, molecular characterization of many other disorders including skeletal dysplasias has not taken place at the same pace.  Patients with these disorders need to be actively recruited in order to molecularly characterize the genetics of these diseases in Pakistan. We hypothesize that obtaining this information will identify clinical indicators helpful for genetic diagnosis of these disorders. We propose to map and identify genes and loci for skeletal dysplasia.

 Project

Our project will move in two scientific directions:

  1. Concentrating on large pedigrees with molecularly undiagnosed skeletal dysplasia in order to identify the involved genes.
  2. Working with isolated individuals who have confirmed or suspected achondroplasia and screening most common mutations in FGFR3.

Will you like to participate?

Contact Dr. Sadaf Naz, naz.sbs@pu.edu.pk

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