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

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

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

Unravelling disease mechanism in genetic bone disorders using zebrafish as an animal model; 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 with a specialist bone genetics interest at Sheffield Children’s Hospital since 2012, and provides genetics input to the national OI service. She has led several projects focused on genetics of rare bone disorders and currently pursuing a MRC Fellowship on developing zebrafish disease models for bone fragility and developing targets for therapeutic intervention.

In the area of paediatric genetics and genomic medicine, Dr Balasubramanian has several studies focused on genotype-phenotype correlation in newly identified genes from next generation sequencing studies such as Deciphering Developmental Disorders study and has several first/ senior author papers published in this area. She has published the largest global clinical series of patient cohort with rare gene disorders including HNRNPU (2017/ 2020), ASXL3 (2017/2020/2021), SIN3A (2021), IQSEC2 (2019), YWHAG (2020), ZMYND11(2020) and written expert literature (Genereview/Orphanet) for ASXL3, HNRNPU & SIN3A developing international guidelines on diagnosis & management of these rare genetic conditions (2017-21).

She has published over 95 first and senior-author publications in these areas and text books including a recent molecular medicine series on OI. She has also edited and written several patient information leaflets, done podcasts and invited presentations on rare bone and genetic disorders for Unique (www.rarechromo.org) and Brittle Bone Society (BBS).

Her other roles include North East and Yorkshire Genomic Medicine Service Research Collaborative representative for Genomics England, Bone fragility lead for Genomic Clinical Interpretation Partnership (GeCIP), part of 100,000 Genomes project initiative to establish genetic causes of rare diseases in UK. She is the current secretary for Clinical Genetics Society and serves on the ‘Medical Advisory Board’ for Brittle Bone Society, SATB2 patient support group and Scientific Advisory Committee member for The Children’s Hospital Charity.

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