Wednesday, January 20, 2021
Human Molecular Genetics and Metabolic Disorders

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(Group Leader)


Head of Division

Team Members

This group is doing research on the common and rare genetic and metabolic diseases affecting Pakistani population. Main aims are to identify, characterize, screen, diagnose, prevent and possibly treat such diseases in addition to generating novel scientific data. Further details can be found under each theme below. Following scientists and their group members are working on different aspects of this research.

 

Metabolic Disorders Laboratory

Molecular level defects in the metabolism can result in common and rare inherited diseases. Common metabolic diseases include; Diabetes Mellitus, Obesity, Hypertension and Cardiovascular Diseases. Rare inherited metabolic diseases (called Inborn Errors of Metabolism) can lead to disability and early death of the affected patients.

Our lab is doing research to identify biological causes (defects in genetic variants, variations in types/levels of metabolites and proteins) of these metabolic disorders. We aim to identify unique biomarkers and novel drug targets unique to Pakistani population which may predispose the at-risk persons for these diseases. This data will be used for risk stratification, precision/personalized medicine and pharmacogenetics/pharmacogenomics.

For Inherited metabolic disorders, we aim to develop National level Newborn Screening Program for their early diagnosis using genomics and metabolomics approaches for Inborn Errors of Metabolism in Pakistan.

Primarily we work with human patients for our research but we also work on animal and cell models for basic mechanistic disease biology and/or evaluation of novel therapeutics.

For our research we employ range of molecular biology, molecular genetics, biochemical and data analysis techniques. For example; PCR, ARMS-PCR, PCR-RFLP, RT-PCR, TaqMan genotyping, DNA sequencing, clinical chemistry, HPLC, LC-MS, GC-MS. 

 

Human Molecular Genetics Laboratory (HMGL)

A significant proportion of congenital malformations in the Pakistani population are caused by yet unknown genetic factors. Consequently, the underlying pathophysiological mechanisms remain obscure. Research at Human Molecular Genetics Laboratory is focused on the identification and characterization of gene variants underlying various genetic disorders in local population. Historically, human genetic research has produced novel insights into disease mechanism by identifying the genetic variation responsible for morbid phenotypes. This has not only led to a better understanding of human biology, but has also paved the way toward designing therapeutic interventions and improving quality of life. Additionally, one of the key goals of genetic research has remained to counsel patients with inherited disorders. Using genetic screening of individuals at risk for disease, many countries have benefited greatly from applying this “prevention first” approach by reducing the spread of deleterious alleles in their populations. In this regard, our laboratory provides prenatal genetic diagnosis to families with a history of Beta thalassemia. This screening, coupled with our genetic counseling, has enabled hundreds of families to take informed reproductive decisions and lower the burden of this disease in their family and, by extension, in the country by preventing further affected births. We aim to extend the spectrum of prenatal diagnosis with time. The first ever prenatal genetic diagnosis of hereditary brain tumor in the world was also accomplished at this laboratory.

The existing cohort of Pakistani individuals characterized clinically and for whom DNA samples have been ascertained by the HMG provides an opportunity to: 1) improve our understanding of the contribution of recurrent alleles in known human disease genes; 2) expand the allelic series of known disease genes; and 3) identify novel genes implicated in a spectrum of genetic disorders and ultimately 4) to improve genetic diagnosis and carrier screening.

   
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