Meena Balasubramanian

Professor Meena Balasubramanian (University of Sheffield School of Medicine and Population Health) is a leading clinician-scientist and Academic Clinical Geneticist with dual roles at Sheffield Children's Hospital NHS Foundation Trust (Clinical Director for Research, NIHR RDN Children's Speciality Lead). Her work bridges genomic medicine, translational research, and clinical care for rare diseases, particularly osteogenesis imperfecta (OI) and neurodevelopmental disorders (HNRNPU, ASXL3). She leads the nationally commissioned OI gene therapy program and the FAME study on hypophosphatasia.

• Education: MD (Sheffield, 2012) on OI; FRCPCH (2016); FHEA (2023)
• Key Roles: Executive Director of SCYPHeR Initiative; Honorary Consultant Clinical Geneticist

Her research program focuses on gene discovery (NBAS, SPARC, SETD5) through 100,000 Genomes Project collaborations, iPSC modeling for therapeutic discovery, and zebrafish studies of bone mechanics. She has published extensively on collagenopathies, genomic data mining, and clinical-genetic correlations in rare diseases.

Recent articles highlight her work on natural history studies of ASXL3/HNRNPU disorders, secondary genomic findings communication, and multisystem genetic conditions. Awards include FRCPCH and FHEA. She advises international patient groups like 'Unique' and leads pharmacogenomic strategies for HNRNPU-related disorders.