Qaiser Zaman
Government of Khyber Pakhtunkhwa Department of Higher Education Archives and Libraries, Higher Education Department
0000-0002-1261-2990
About
I am a Human Geneticist with a PhD in Human Genetics and Molecular Biology and over 14+ years of research experience in rare disease genomics, whole-exome sequencing (WES), and variant pathogenicity interpretation. My research focuses on translating genomic discoveries into biological insight by integrating phenotype-driven gene prioritization, bioinformatics, and molecular validation. I have led $200K+ international genomics projects funded by industry and government sources, identifying 30+ novel disease-causing variants in neurodevelopmental, neuromuscular, and metabolic disorders, and published 10+ peer-reviewed papers. My long-term goal is to apply functional genomics approaches, including CRISPR-based disease modeling, to validate candidate genes and improve molecular diagnosis of rare diseases. I am particularly interested in zebrafish-based functional validation studies to extend my human genomics expertise.
Employment
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Government of Khyber Pakhtunkhwa Department of Higher Education Archives and Libraries Assistant Professor/ Principle Investigator2016 - Present
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Higher Education Department Lecturer2010 - 2016
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (15)
- Morphological characterization and DNA barcoding of freshwater fishes collected from riverine ecosystem Save
- Molecular Characterization of HBB Gene Variations in Beta-Thalassemia Patients from Khyber Pakhtunkhwa, Pakistan Save
- Current insights and future perspectives on the antiviral defense of Bombyx mori: molecular mechanisms and strategies against Bombyx mori nucleopolyhedrovirus (BmNPV) Save
- The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals Save
- DNA barcoding, phylogenetics, and morphometric analysis of various freshwater fishes Save
- Whole exome sequencing: Unlocking the molecular diagnostic odyssey in Pakhtun ethnic group of Pakistani population Save
- Whole exome sequencing in 33 patients revealed 4 novel variants in 11 limbs-girdle muscular dystrophy families Save
- Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families Save
- Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families Save
- Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families Save