Dr. Mariam Shahid

Profile

Molecular Biologist, Geneticist and Educator

Dr. Mariam Shahid is a geneticist and Assistant Professor at the Centre of Excellence in Molecular Biology, University of the Punjab, where she leads the Genetic Screening Laboratory. Over two decades she has built one of Pakistan's most versatile molecular genetics groups — spanning asthma, COPD, hereditary breast cancer, lung cancer and rare genetic disorders — and translated it into real diagnostic capability for the country.

Her journey began with a Master's in Chemistry, specialising in Biochemistry, from the University of the Punjab. In 2005 she joined CEMB as a Research Officer, where she helped run Pakistan's first high-throughput DNA sequencing and genotyping facility. The following year she trained on genetic analyzers with Applied Biosystems Inc. in Warrington, UK, grounding her early expertise in primer and probe synthesis and a broad range of DNA-synthesis-based molecular biology techniques.

In 2009 she was awarded the Higher Education Commission's Indigenous Ph.D. Scholarship and began research on the genetics of asthma in the Pakistani population. She developed a cost-effective method for SNP typing and candidate-gene sequencing, uncovering polymorphisms and haplotypes linked to asthma susceptibility. After training in bioinformatics at COMSTECH, Islamabad, she used tools such as Haploview, PLINK and HaploReg to propose an epigenetic mechanism linking a 17q12 variant to asthma risk — work recognised in 2015 with a travel grant from the European Academy of Allergy and Clinical Immunology (EAACI) to present at an international course on Molecular and Lab Asthma in Istanbul.

Since 2019, as Assistant Professor and In-Charge of the Genetic Screening Lab, Dr. Mariam has expanded her research into cancer genomics and long-read sequencing. She established CEMB's Oxford Nanopore-based Genetic Screening Facility, bringing cost-effective, next-generation diagnostics to the region, and now leads a research portfolio spanning respiratory genetics, oncogenetics and rare disease genomics. She is Principal Investigator on multiple competitively funded projects — including a PKR 8.63 million Pakistan Academy of Sciences project on cost-effective BRCA1/2 screening for early cancer detection, and completed HEC-funded studies on Vitamin D receptor variants in COPD and chromosome 14 susceptibility loci in inherited emphysema — with over PKR 16 million in total research funding secured to date. She is also a Collaborating Partner on an ongoing Swiss National Science Foundation project investigating the genetics of Congenital Hypogonadotropic Hypogonadism in the Pakistani population, in partnership with the University Hospital CHUV, Lausanne.

An HEC-approved Ph.D. supervisor, Dr. Mariam has mentored 23 M.Phil, 3 Ph.D. and 12 internship students, and teaches Medical Genetics, Molecular Biology, Biotechnology and High-Throughput Techniques for Gene Expression at postgraduate level. Her technical expertise spans Sanger, next-generation and Oxford Nanopore sequencing, fragment analysis, and computational genomics using R, PLINK and Haploview — bridging wet-lab and dry-lab genetics for both monogenic and complex diseases.

Beyond the lab, she contributes to institutional governance and outreach: serving on the Departmental Doctoral Programme Coordination Committee and the Board of Faculty of Life Sciences, University of the Punjab, and as Co-Chairperson of CEMB's Purchase/Procurement Committee. She is also a focal person for the HEC Pink Ribbon Youth Leadership Programme.

Her work has produced over 25 peer-reviewed publications in journals including CHEST, BMC Genomics and Clinical and Experimental Allergy, and she serves as a peer reviewer for the Journal of Asthma and Allergy and the Journal of Inflammation Research, among others. She is a member of the Organization for Women in Science for the Developing World (OWSD), the European Academy of Allergy and Clinical Immunology, the World Allergy Organization and the Asthma Society of Ireland.