Dr Balasubramanian has a long-standing interest in SATB2/ 2q33 microdeletion syndrome having published the largest series of patients with 2q33 deletion at the time (Balasubramanian et al., J Med Genet 2011) and UNIQUE leaflet on this. She has since established a national multi-disciplinary SATB2 clinic in the UK and a regular attendee at the UK-SATB2 support group annual meeting since its inception.
Her other roles include 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 Diagnostic Working Group Co-lead for BOND-ERN (Rare Bone Disease- European Reference Network). She works as Council member for Clinical Genetics Society and serves on the ‘Medical Advisory Board’ for Brittle Bone Society, recently doing a podcast on genetics to coincide with Rare Disease Day in Feb 2019.
Her research interests include: SATB2 and bone health, digital disease phenotyping; basic science research with industry in identifying new targets for treating bone fragility. She has close links nationally and internationally with scientists and clinicians in other metabolic and genetic centres.
Dr Balasubramanian’s other areas of specialism, include Genetics in autism & Paediatric Dysmorphology. She has published over 67 first and senior-author publications in these areas; patient information leaflets for rare genetic disorders and text books including a recent molecular medicine series on OI.