Noor Ul Ain is a highly accomplished molecular biologist whose academic journey reflects consistent excellence from her undergraduate studies in medical laboratory technology through advanced training in biochemistry, molecular biology, and culminating in a doctorate in molecular biology. Her professional career spans significant roles as a medical laboratory technologist at Shaukat Khanum Cancer Memorial Hospital, scientific officer, and later senior scientific officer at the Institute of Biomedical and Genetic Engineering in Islamabad, as well as a visiting PhD researcher at the Karolinska Institutet in Sweden. Her research interests focus on the genetics of rare skeletal disorders, genetic susceptibility to disease outcomes such as COVID, and broader studies in molecular genetics and clinical genomics. Skilled in a wide range of laboratory and analytical techniques, including next-generation sequencing, whole exome and genome data analysis, sanger sequencing, cell culture, cloning, immunofluorescence, and microscopy, she has contributed to numerous international publications with impactful findings in human genetics and molecular pathology. She has been recognized with several prestigious awards and scholarships, including distinctions for academic performance and international research fellowships. Noor Ul Ain stands out as a promising researcher whose contributions bridge clinical relevance with molecular discovery, and her dedication positions her as a leading figure in advancing genetic and biomedical sciences..
Reilly, M. L., Ain, N. U., Muurinen, M., Tata, A., Huber, C., Simon, M., Ishaq, T., Shaw, N., Rusanen, S., Pekkinen, M., … (2022). Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging from lethal skeletal ciliopathy to severe acromesomelic dysplasia. Journal of Bone and Mineral Research.
Kausar, M., Ain, N. U., Hayat, F., Fatima, H., Azim, S., Ullah, H., Mushtaq, M., Khalid, S., Hussain, S., Naz, S., … (2022). Biallelic variants in CHST3 cause spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds. BMC Musculoskeletal Disorders.
Shakeel, M., Irfan, M., Nisa, Z. U., Farooq, S., Ain, N. U., Iqbal, W., Kakar, N., Jahan, S., Shahzad, M., Siddiqi, S., et al. (2022). Genome sequencing and analysis of genomic diversity in the locally transmitted SARS-CoV-2 in Pakistan. Transboundary and Emerging Diseases.
Ain, N. U., Muhammad, N., Dianatpour, M., Baroncelli, M., Iqbal, M., Fard, M. A. F., Bukhari, I., Ahmed, S., Hajipour, M., Tabatabaie, Z., et al. (2021). Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. Human Mutation.
Ain, N. U., Baroncelli, M., Costantini, A., Ishaq, T., Taylan, F., Nilsson, O., Mäkitie, O., Naz, S. (2021). Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. Journal of Medical Genetics.
Ain, N. U., Fatima, Z., Naz, S., Makitie, O. (2021). RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature. BMC Musculoskeletal Disorders.
Muhammad, N., Yasin, S., Fatima, Z., Ain, N. U., Faizan, M., Naz, S. (2021). The c.1138G>A variant of fibroblast growth factor receptor 3 is a common cause of Achondroplasia in Pakistan. Pakistan Journal of Zoology, 53(6), 2519-2521.