Impact
Shaping diagnostic and clinical practice in rare bone diseases and neurodevelopmental disorders are key areas of focus for The Balasubramanian Lab.
Dr Meena Balasubramanian at the HNRNP-Related Neurodevelopmental Disorders Family and Scientific Symposium 2022.
Dr Meena Balasubramanian and Alana Hodgson at the HNRNP Family Foundation meeting, 2023.
HNRNPU-related disorder
Due to her research on HNRNPU-related disorder, Meena is routinely contacted by clinicians and families across the world for advice. Meena also is active in the community and attends HNRNPU Family Foundation meetings.
Dr Meena Balasubramanian's research on methylation episignature for HNRNPU with colleagues at Cambridge University helped establish identify a unique signature for HNRNPU. This has been used to reanalyse pathogenicity of variants of uncertain significance identified worldwide on HNRNPU through genetic testing.
Another example of the impact of this work is the introduction of cardiovascular screening and anti-seizure medications for HNRNPU-related disorder based on research into longitudinal data and natural history research into this condition (Taylor et al., 2022; Durkin et al., 2020).
Presentation on mainstreaming genetic testing in the NHS
ARRE Foundation: Familial presentation in ASXL3-related disorder
Impact of early diagnosis in OI
Patient guides (Unique charity), information leaflets and review articles on RBDs and RNDDs
Osteogenesis Imperfecta (OI)
Transforming diagnostic pathways nationally for patients with OI with early confirmatory genetic diagnosis, shortening diagnostic times and ensuring early diagnosis and institution of treatment and follow-up in specialist centres.
Informing European policy on early genetic diagnosis for rare bone diseases through the White paper presented at the European parliament which has meant improved access to whole genome sequencing across all member states through Meena's work with ERN-BOND as working group lead.
Meena has worked on whole exome sequencing on a cohort of patients with molecularly unresolved OI identified NBAS gene as a novel cause of OI (Balasubramanian et al., 2017). This led to NBAS being included in diagnostic OI gene panel testing to UK Genetic testing Network in 2019 ensuring prompt diagnosis of NBAS patients presenting with fractures.
South Yorkshire Children and Young People's Health Research
Dr Meena is a co-founder and Executive Director of South Yorkshire Children and Young People's Health Research (SCYPHeR), a network which represents a growing community of child health researchers in the region. SCYPHeR is a collaboration between the University of Sheffield, Sheffield Children's NHS Foundation Trust and Sheffield Hallam University.
Find out more about SCYPHeR here.