Professional Summary
Dr. Noor ul Ain joined IBGE in 2017 and has since contributed to advancing genetic research, focusing on identification of novel mutations underlying hereditary disorders. Her work aims to strengthen a commitment to improving diagnostics and patient outcomes. She is strongly committed to advancing molecular diagnosis to improve patient management, enable effective genetic counselling and support the development of targeted therapeutic strategies, particularly for rare genetic disorders.
Key Research Areas & Contributions
- Areas of expertise include Human disease genetics, Molecular genetics, Genomic data analysis, Chromosomal microarray, Targeted sequencing, Molecular cloning, Intracellular protein localization studies and Cell knock down studies via siRNA.
- Identified and documented multiple genetic mutations in both known and novel genes linked to skeletal dysplasia within the Pakistani population. Two skeletal disorders are officially recognized by OMIM in her name: Ain-Naz type of Dysostosis Multiplex (DMAN, OMIM# 619345) and Ain-Naz type of Rhizomelic Dysplasia (RHZDAN, OMIM# 619598).
Diagnostic Services
- Y-chromosomal Deletion Test
- Targeted Mutation Screening Test
- Chromosomal Microarray Test
- Genetic counselling of patients and families
Awards & Honours
- Recipient of the 2026 Maria Luisa Bianchi Award presented at the ICCBH meeting in Canada, in recognition of her work to date and the significant contribution she made to the field of pediatric bone health research.
Collaborations
Collaborates with international experts in genomic medicine and skeletal genetics, including Dr. Carlos Ferreira (National Institutes of Health, USA) and Prof. Dr. Andreas Zankl (University of Sydney, Australia).