+44 (0)114 215 9667 mellanbycentre@sheffield.ac.uk

Dr Meena Balasubramanian (MBBS, DCH, FRCPCH, MD)

Consultant Clinical Geneticist; Lead Geneticist for the Highly specialised, severe, complex and atypical Osteogenesis Imperfecta national service; Honorary Senior Lecturer, Department of Oncology & Metabolism, University of Sheffield.

Understanding genetic aetiology and phenotypic variability in bone fragility and translational biology of  bone disease

Email: m.balasubramanian@sheffield.ac.uk

Dr Balasubramanian completed her Paediatric training before undertaking specialist training in Clinical Genetics in Southampton and Sheffield. Her MD is on atypical presentation of Osteogenesis Imperfecta (OI) obtained from the University of Sheffield in 2012. She has been a Consultant in Clinical Genetics at Sheffield Children’s Hospital since 2012 and provides genetics input to the national OI service, seeing patients referred across UK. She has led several projects focused on genetics of OI and currently pursuing research projects focussed on identifying novel genetic causes in OI and exploring newer targets for therapy for OI.

Meena’s research interests include in-depth phenotyping of rare bone diseases through skin and bone tissue analyses (funded by NIHR RD-TRC) combined with detailed clinical phenotyping and molecular genotyping. Advances in genomic medicine has led to increased use of next generation sequencing to identify new candidate genes and explore their phenotypic associations. Meena is the Bone fragility lead for Genomic Clinical Interpretation Partnership (GeCIP), part of the 100,000 Genomes project initiative to establish genetic causes of rare diseases in UK. She works across faculties in Sheffield, including projects with INSIGNEO on digital disease phenotyping; industry in identifying new targets for treating bone fragility. She has close links with clinicians in other regional metabolic and genetic centres; patient support groups including Brittle Bone Society.

Meena’s other areas of specialism, include Genetics in autism & Paediatric Dysmorphology. She has published over 40 first and senior-author publications in these areas and text books including a recent molecular medicine series on OI.

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