Since 2008, I have been the co-Director of the Center for Non-Communicable Disorders and lead a team in Pakistan, who are primarily working on projects aimed to decipher the genetic, lifestyle and biomarker determinants of complex conditions, like stroke, type-2 diabetes and heart attacks. My research has focused on understanding the genetic etiology of complex diseases and monogenic disorders since 1983. My early work was based on identifying, characterizing and designing assays for single nucleotide polymorphisms which could be further used in association studies. Later on, I specifically focused my research in populations with a high burden of consanguinity. In this respect, I have worked in the United Arab Emirates for eight years and in Pakistan for 14 years. In both these countries I have helped establish large DNA biobanks which enabled identification of a large number of genetic and non-genetic factors associated with pulmonary, cardio-metabolic and other outcomes.
My early work focused on identifying new genetic markers to study complex traits and outcomes. My group further used those markers to conduct studies for identification of genes implicated in complex human diseases (those have now become the norm and gold standards in the field); as exemplified by my work that led to the identification of SNPs in the human amyloid beta protein gene in association with Alzheimer's disease in 1988.
Between 1993-2001, my group established a model DNA database of 5,000 representative samples from the Emirati population in the United Arab Emirates. Through this bioresource, my group identified new genetic mutations responsible for several complex and monogenic diseases in the UAE, as well as a new genodermatosis, CIFAHH (OMIM # 602499). I also Implemented, in collaboration with MoH colleagues, the National Epidemiological Study of Hypertension in the Emirates (NESHE), a nation-wide program on hypertension epidemiology and diagnosis and on raising awareness of the disease in the UAE population. My group identified cystic fibrosis (CF) causing genetic mutations and implemented a CF genetic screening program at the levels of the United Arab Emirates and of Oman.
Since 2001, I have been conducting studies in Pakistan – a region with one of the highest prevalence of first cousin marriages and a gold-mine to identify novel genetic loci associated with diseases. There was no research infrastructure or appropriate research staff in that part of the world to conduct such type of studies. Together with Dr. Saleheen, whom I have known since he was a medical student in 2002, I co-led the establishment of a large population based bioresource which has now enrolled close to 60,000 participants. On all of these participants, DNA (stored at -40 C), serum and plasma (stored at -80 C) are available; several aliquots from all of these samples have also been shipped to the University of Pennsylvania, USA where they have undergone a wide number of measurements. I also established the Center for Non-Communicable Diseases in Pakistan (www.cncdpk.com) which serves as the coordinating center for these studies. These population based resources are already making an important contribution to help understand the genetic and non-genetic determinants of cardiometabolic diseases in South Asians.