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
Faculty Members: 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 shed light on the unique genetic architecture and diversity within the Pakistani population, 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; RIPHAH International University, Lahore
International Collaborators: University of Lausanne, Switzerland
Students:
Huzaifa Binte Rashid, Warda Cheema
Relevant Publications:
1. 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. doi: https://doi.org/10.12669/pjms.39.1.5905.
2. 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.
3. Riazuddin S*, Hussain M*, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K; Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry. 2017 Nov;22(11):1604-1614.
4. 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
5. Polla DL, FaraziFard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, NadifKasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, TaghipourSheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. Genet Med. 2021 Jul;23(7):1246-1254