GENETIC AND METABOLIC DISORDERS
Area of research: Biochemistry, Molecular Biology,
Theme: Metabolic syndrome, Myocardial infarction, Human molecular genetics
SDGs covered: SDG No. 3: Good health and well-being
Group Lead: Dr. Mohammad Perwaiz Iqbal (Email: [email protected])
Faculty Members: Dr. Mohammad Perwaiz Iqbal, Imran Tipu, Muhammad Khurram
Description: Our research group is dedicated to investigating the genetic causes underlying rare inherited disorders prevalent in the Pakistani population. By employing advanced techniques such as exome sequencing and genome sequencing, we aim to identify and characterize the genetic variants responsible for these disorders. This research theme seeks to elucidate the unique genetic architecture and diversity within the Pakistani population, thereby contributing to a comprehensive understanding of rare diseases and facilitating the development of targeted diagnostic and therapeutic strategies.
National Collaborators:
Aga Khan University, Karachi; Shalimar Medical and Dental College, Lahore; Gulab Devi Hospital, Lahore; National Skills University, Islamabad.
International Collaborators: University of Lausanne, Switzerland; China Medical University Tai Chung, Taiwan.
Relevant Publications:
1. Iqbal MP, Sajjad T, Iqbal SP, Khurram M. Metabolically healthy obesity (MHO) and factors influencing its prevalence in a population in North-West Lahore. Pak J Med Sci. 2025 May;41(5):1452-1458.
2. Abbas, E.; Fawwad, A.; Siddiqui, I.A.; Afzal, M.S.; Ansar, M.; Saqib, M.A.N.; Shahid, S.M. Risk Factors for the Development of Early Onset Diabetes in the Population of Sindh Province, Pakistan. Biomedicines 2025, 13, 1107.
3. Yousuf FA, Azam I, Tareen AK, Kazmi KA, Muhammad JS, Iqbal MP. Association of the BB genotype of the ABO gene with the risk of acute myocardial infarction in hospital-based study. Pak J Med Sci. 2023;39 (1):133-138.
4. Maqbool. H, Hassan. D, Khalid. S, Tipu. I. Impact of physical activity on lipid disorders in prehypertensive population. Journal of Xi’an Shiyou University, Natural Science Edition. 2023: 19(1): 543-556.
5. Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341