Welcome to the Center for Non-Communicable Diseases

Non-Communicable Diseases such as coronary heart diseases, diabetes mellitus, liver diseases, kidney diseases and cancers are the leading cause of disability and death worldwide. Burden on health due to these disorders is particularly increasing in developing countries, particularly among the 1.5 billion people in South Asia. The Center for Non-Communicable Diseases (CNCD), Pakistan is an independent research institute that is conducting detailed investigations to identify genetic, lifestyle and blood based factors that cause these disorders.

In-particular, CNCD has already collected various biological specimens (including DNA, serum, and plasma) and recorded extensive lifestyle, clinical and demographic information from > 65,000 participants enrolled from thirteen urban sites in Pakistan. CNCD has a staff of > 80 which includes medical physicians, laboratory research associates, field nurses, and data-entry operators. Our aim is to investigate these complex disorders through a multi-disciplinary approach by integrating clinical epidemiology, genomics, proteomics and experimental biology:

Clinical Epidemiology CNCD has designed, optimized and validated instruments that are tailored to the local Pakistani population. We are able to record reliably information on personal and medical history, consanguinity or marriages among relatives, tobacco consumption, physical activity, anthropometry, socio-economic status, depression, anxiety level, and dietary habits. Our health physicians working in the field have all been trained extensively to document or conduct specific clinical investigations relevant to different clinical studies (such as conducting trans-cranial Doppler imaging studies, digitally archiving CT-scans and ECG traits).

Genomics Through collaboration with various international institutes, we have conducted detailed genetic investigations on the participants that we have enrolled. These state-of-the art genetic approaches include whole-genome sequencing, whole-exome sequencing, genome-wide association studies (GWAS), and genotyping using Cardio-Metabochip, exome-chip and IBC-arrays. Information on >8 million genetic markers on 25,000 participants through GWAS has also been collected. Whole-exome sequencing studies in >22,500 participants have recently been conducted.

Blood based factors Greater than 200 blood based factors related to various biological pathways including lipids, metabolism, insulin resistance, hemostasis and inflammation have been analyzed on this population based resource. Moreover, more novel approaches such as mass-spectroscopy and functional assays have also been implemented.

Multi-disciplinary approach The unique aspect of these investigations is the availability of data on lifestyle, genomics and blood based factors on the same participants providing unprecedented opportunities to make novel biological discoveries.

Call back studies in Human knockouts Because of the high degree of first-cousin marriages observed in Pakistan,  whole-exome sequencing studies have identified a high number of individuals who are homozygous null for loss of function (LoF) mutations; these "human knockouts" provide unprecedented opportunities to understand function of a given gene. We have already put together a database comprising of >1800 human knockouts. Our team is systematically conducting call back studies in these human knockouts and apply both unbiased approaches and hypothesis driven methods that involve focused physiological studies.