Meena Balasubramanian
Meena Balasubramanian is a Professor of Medical Genetics, Division of Clinical Medicine, University of Sheffield.[1] She is the Clinical Director of Research and Honorary Consultant Clinical Geneticist at the Sheffield Children's NHS Foundation Trust,[2] and the Lead Geneticist for the Highly specialised, severe, complex and atypical Osteogenesis Imperfecta national service, an Executive Director for the South Yorkshire Children and Young People's Health Research (SCYPHeR) Initiative, and a NIHR[3] Yorkshire & Humber Research Delivery Network Children's Speciality Lead.
Early life and education
Balasubramanian's childhood was spent in India where she developed a passion for genetic engineering and the endless possibilities from this. Growing up in a family of non-medics, she was the first in her family to study medicine and received the 'Pfizer Outstanding Student' award on graduation. Between 1996 and 2002, Balasubramanian attended Rajiv Gandhi University of Health Sciences in India.
Balasubramanian graduated with an MD (Doctor in Medicine) in the department of Human Metabolism from the University of Sheffield[1] in 2012 after previously receiving a Bachelor in Medicine and Bachelor in Surgery (MBBS) and a Diploma in Child Health from the Royal College of Paediatrics and Child Health[4] (DCH).
In 2007, Balasubramanian became a member of the Royal College of Paediatrics and Child Health (RCPCH)[4] and in 2016, she was nominated as a Fellow of the RCPCH.[4] In 2023, Balasubramanian became a Fellow of Health Education Academy (FHEA), Advance HE.[5]
Research and career
In June 2001, Balasubramanian spent a year as a Pre-registration House Officer, at Dr Ambedkar Medical College.[6] in India. In August 2003, she moved to Leicester Royal Infirmary[7] as a Senior House Officer, Paediatrics Rotation for two years, before becoming a Specialist Registrar for Paediatrics until December 2006. In January 2007, Balasubramanian went to the Princess Anne Hospital[8] in Southampton in the Wessex Clinical Genetics Service, before becoming a Specialist Registrar in Clinical Genetics at the Sheffield Children's Hospital[2] in February 2008. She continued her work on rare disease focusing on diagnostics and therapeutics since becoming a translational clinician-scientist at University of Sheffield[1]
Balasubramanian has two main areas of research. The first area is "rare bone disease" for which Balasubramanian has completed a MRC Fellowship on developing zebrafish disease models for bone fragility, and has set up her own lab at Bateson Centre[9] for developing targets for therapeutic intervention.
The second area of research is "genomic medicine" focusing on genotype-phenotype correlation in newly identified genes from next generation sequencing studies such as Deciphering Developmental Disorders (DDD) study and the Genomics England, 100,000 Genomes Project.
Awards and honours
Balasubramanian has received numerous accolades and invitations to several national and international conferences. She is particularly passionate about her work with patient support groups promoting the patient voice in rare disease. She works with a number of patient advocacy groups including HNRNP Family Foundation,[10] BetterFuture4U[11] and Brittle Bone Society.[12]
Publications
Balasubramanian has authored more than 135 original peer-reviewed articles on PubMed.[13]
- Balasubramanian, M.; Hurst, J.; Brown, S.; Bishop, N. J.; Arundel, P.; DeVile, C.; Pollitt, R. C.; Crooks, L.; Longman, D.; Caceres, J. F.; Shackley, F.; Connolly, S.; Payne, J. H.; Offiah, A. C.; Hughes, D. (January 2017). "Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta". Bone. 94: 65–74. doi:10.1016/j.bone.2016.10.023. ISSN 1873-2763. PMC 6067660. PMID 27789416.
- Balasubramanian, Meena; Schirwani, Schaida (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A., eds., "ASXL3-Related Disorder", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 33151654 Check
|pmid=value (help), retrieved 2025-09-18 - Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A.; Holder-Espinasse, Muriel; Fry, Andrew E.; Németh, Andrea H.; Tofaris, George K.; Hay, Eleanor; Hughes, Imelda; Mansour, Sahar; Mordekar, Santosh R.; Splitt, Miranda; Turnpenny, Peter D. (2022-10-04). "The Phenotypic Continuum of ATP1A3-Related Disorders". Neurology. 99 (14): e1511–e1526. doi:10.1212/WNL.0000000000200927. ISSN 1526-632X. PMC 9576304 Check
|pmc=value (help). PMID 36192182 Check|pmid=value (help). - Green, Claire; Willoughby, Joshua; DDD Study; Balasubramanian, Meena (December 2017). "De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus". American Journal of Medical Genetics. Part A. 173 (12): 3165–3171. doi:10.1002/ajmg.a.38461. hdl:11655/16073. ISSN 1552-4833. PMID 28905509.
- Balasubramanian, M.; Willoughby, J.; Fry, A. E.; Weber, A.; Firth, H. V.; Deshpande, C.; Berg, J. N.; Chandler, K.; Metcalfe, K. A.; Lam, W.; Pilz, D. T.; Tomkins, S. (August 2017). "Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature". Journal of Medical Genetics. 54 (8): 537–543. doi:10.1136/jmedgenet-2016-104360. ISSN 1468-6244. PMID 28100473.
- Durkin, Anna; DeVile, Catherine; Arundel, Paul; Bull, Mary; Walsh, Jennifer; Bishop, Nicholas J.; Hupin, Emilie; Parekh, Susan; Nadarajah, Ramesh; Offiah, Amaka C.; Calder, Alistair; Brock, Joanna; Baker, Duncan; Balasubramanian, Meena (August 2022). "Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review". Journal of Medical Genetics. 59 (8): 810–816. doi:10.1136/jmedgenet-2021-107942. ISSN 1468-6244. PMID 34462290 Check
|pmid=value (help). - Thornley, Patrick; Bishop, Nicholas; Baker, Duncan; Brock, Joanna; Arundel, Paul; Burren, Christine; Smithson, Sarah; DeVile, Catherine; Crowe, Belinda; Allgrove, Jeremy; Saraff, Vrinda; Shaw, Nick; Balasubramanian, Meena (May 2022). "Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study". Archives of Disease in Childhood. 107 (5): 486–490. doi:10.1136/archdischild-2021-322911. ISSN 1468-2044. PMID 34750202 Check
|pmid=value (help). - Marshall, Charlotte; Lopez, Jaime; Crookes, Laura; Pollitt, Rebecca C.; Balasubramanian, Meena (2016-12-20). "A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly". Gene. 595 (1): 49–52. doi:10.1016/j.gene.2016.09.035. ISSN 1879-0038. PMID 27677223.
- Souche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin (September 2022). "Recommendations for whole genome sequencing in diagnostics for rare diseases". European Journal of Human Genetics. 30 (9): 1017–1021. doi:10.1038/s41431-022-01113-x. ISSN 1476-5438. PMC 9437083 Check
|pmc=value (help). PMID 35577938 Check|pmid=value (help). - Javaid, Muhammad Kassim; Mordenti, Marina; Boarini, Manila; Sangiorgi, Luca; ERN BOND Working Group; Westerheim, Ingunn; Alves, Inês; Skarberg, Rebecca Tvedt; Appelman-Dijkstra, Natasha M.; Grasemann, Corinna (2021-11-03). "Patients' priorities and expectations on an EU registry for rare bone and mineral conditions". Orphanet Journal of Rare Diseases. 16 (1): 463. doi:10.1186/s13023-021-02069-9. ISSN 1750-1172. PMC 8564998 Check
|pmc=value (help). PMID 34732217 Check|pmid=value (help).
References
- ↑ 1.0 1.1 1.2 "Home". sheffield.ac.uk. 2025-09-15. Retrieved 2025-09-18.
- ↑ 2.0 2.1 "Home". Sheffield Children's NHS Foundation Trust. Retrieved 2025-09-18.
- ↑ "Homepage". www.nihr.ac.uk. Archived from the original on 2025-08-25. Retrieved 2025-09-18.
- ↑ 4.0 4.1 4.2 "RCPCH | The Royal College of Paediatrics and Child Health". www.rcpch.ac.uk. 2025-09-23. Retrieved 2025-09-18.
- ↑ "Home | Advance HE". www.advance-he.ac.uk. Retrieved 2025-09-18.
- ↑ "Home | Dr. B.R. Ambedkar Medical College & Hospital | Bengaluru". DR. B.R. Ambedkar. Retrieved 2025-09-18.
- ↑ "Leicester Royal Infirmary". University Hospitals of Leicester NHS Trust. Retrieved 2025-09-18.
- ↑ "Princess Anne Hospital". www.uhs.nhs.uk. Retrieved 2025-09-18.
- ↑ "Bateson Centre for Disease Mechanisms". sheffield.ac.uk. 2025-05-29. Retrieved 2025-09-18.
- ↑ "Home | The HNRNP Family Foundation". HNRNP Family Fdn. Retrieved 2025-09-18.
- ↑ "Home". BF4U. Retrieved 2025-09-18.
- ↑ BBS. "Support for people with Osteogenesis Imperfecta". BBS. Retrieved 2025-09-18.
- ↑ "PubMed". PubMed. Retrieved 2025-09-18.
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