Dr. Philippe Frossards
Dr. Philippe Frossards

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.


Selected Publications 


  1. Wilson JM, Frossard PM, Nussbaum RL, Caskey CT, Kelley WN. Human hypoxanthine-guanine phosphoribosyltransferase: detection of a mutant allele by restriction endonuclease analysis. J Cin Invest 1983;72(3):767-772.
  2. Frossard PM, Coleman RT, Dillan NA, Lim DW, Malloy MJ, Kane JP, Funke H, Assmann G. DraI RFLP in the human apolipoprotein AI-CIII-AIV gene complex. Nucleic Acids Research 1986; 14(21): 8699.
  3. Taylor JE, Tinklenberg JR, Eng LF, Yesavage JA, Vinogradov S, Davies HG, Gonzalez-DeWhitt PA, Frossard PM. Association study between Alzheimer's disease and restriction fragment length polymorphisms at the human amyloid beta protein gene locus. Mol Biol Med 1988;5(3):167-172.
  4. Genest JJ Jr., Ordovas JM, McNamara JR, Robbins AM, Meade T, Cohn SD, Salem DN, Wilson PWF, Masharani U, Frossard PM, Schaeffer EJ. DNA polymorphisms of the apolipoprotein B gene in patients with premature coronary artery disease. Atherosclerosis 1990; 82(1-2): 7-17.
  5. Frossard PM, Obineche EN, Lestringant GG, Elshahat YI. Association study between the ANF gene and hypertension in a Gulf Arab population. American Journal of Hypertension 1997; 10(11): 1308-1310. 
  6. Frossard PM, Lestringant GG, Elshahat YI, John A, Obineche EN. An MboI two-allele polymorphism may implicate the human renin gene in primary hypertension. Hypertension Research 1998; 21(3): 221-225.
  7. Frossard PM, Hill S, Elshahat YI, Obineche EN, Bokhari AM, Lestringant GG, John A, Abdulle AM. Associations of angiotensinogen gene mutations with hypertension and myocardial infarction a Gulf population. Clinical Genetics 1998; 54(4): 285-293.
  8. Saleheen D, et al., Frossard P*, Danesh J*, Rader DJ*, Kathiresan S*.. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 Apr 12;544(7649):235-239. 
  9. Kooner JS, Saleheen D, Sim X, Sehmi J, Zhang W, Frossard P (joint-first), et.al. Nat Genet. 2011 Aug 28;43(10):984-9.
  10. Saleheen D, <42 authors>> Frossard P, Danesh J. The Pakistan Risk of Myocardial Infarction Study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia. European Journal of Epidemiology 2009; 24(6): 329-38.