Professor Meena Balasubramanian

Professor Meena Balasubramanian is an academic clinical geneticist and Clinical Director of Research at Sheffield Children’s NHS Foundation Trust.

Her research is focused on genetics of Osteogenesis Imperfecta (OI) and genotype-phenotype correlation in newly identified genes. She is pursuing a MRC Fellowship, having established her own lab on zebrafish disease models for bone fragility. She has published over 120 principal-author publications and textbooks including a recent molecular medicine series on OI. She has also edited and written several patient information leaflets on rare genetic disorders for Unique (www.rarechromo.org) and Brittle Bone Society.

Meena is a leading researcher into several rare neurodevelopmental disorders (RNDD) genes and runs natural history studies, including, HNRNPU and ASXL3. Meena’s group have published the largest clinical cohorts for the following rare neurodevelopmental disorder (RNDD) genes: HNRNPU, ASXL3, SIN3A, IQSEC2, YWHAG, ZMYND11 and written the expert literature reviews (Genereview/Orphanet) for ASXL3, HNRNPU & SIN3A.

Her other roles include Research Director, North East and Yorkshire NHS Genomic Medicine Service Alliance; Bone fragility lead, Genomic Clinical Interpretation Partnership (GeCIP), part of 100,000 Genomes project initiative to establish genetic causes of rare diseases in UK. She is Secretary for Clinical Genetics Society and serves on the ‘Medical Advisory Board’ for Brittle Bone Society, HNRNP Family Foundation and Chair of the ‘Sheffield Advanced Therapeutics – Development and Delivery Collaborative’ at Sheffield Children’s.