Balasubramanian , Meena, Dr

Dr Meena Balasubramanian

MBBS, DCH, FRCPCH, MD, FHEA

Clinical Medicine, School of Medicine and Population Health

Senior Clinical Lecturer in Musculoskeletal Genetics

Clinical Director for Research, 91ֱ�� Childrens Hospital NHS Foundation Trust.

Founding Director, SCYPHeR (91ֱ�� Children and Young People Health Research) Initiative.

Honorary Consultant Clinical Geneticist; 91ֱ�� Childrens NHS Foundation Trust.

Research Director, NHS North East and Yorkshire Genomic Medicine Service Alliance.

Lead Consultant Bone Geneticist for the nationally-commissioned Osteogenesis Imperfecta service in England.

MED - Meena Balasubramanian — Dr Meena Balasubramanian

m.balasubramanian@sheffield.ac.uk
+44 114 215 9008

+44 114 271 7025 (Secretary)

D39 , Firth Court

Full contact details

Dr Meena Balasubramanian
Clinical Medicine, School of Medicine and Population Health
D39
Firth Court
Western Bank
91ֱ��
S10 2TN

Profile

For enquiries please contact - SMPH-West-Operational@sheffield.ac.uk

Rare diseases affect over 3.5 million people in the UK and recent medical advances have provided the means to generate diagnoses for several rare diseases that have been studied to-date but have no treatment. Importantly, a large proportion of these diseases are caused by specific alterations in the genetic building blocks or DNA of affected patients. I am a Clinician Scientist and Academic Clinical Geneticist who combines clinical insights into rare diseases with excellent science on in vivo and in vitro modelling, capitalising on key strengths I have gained through my career to-date, providing a direct link to translational medicine and the independence to pursue my vision of transforming care provided for rare disease patients.

My current research programme have the following themes:

Enabling early confirmatory diagnosis through mining genomics data and functional characterisation of novel rare disease genes.
Understanding disease mechanism through cell-based and animal modelling.
Natural history studies with the focus on pulling together ‘trial-ready’ cohorts of rare disease patients with emphasis on advanced gene-directed therapies.

I hold a joint position with 91ֱ�� Children’s Hospital which is only one of three dedicated children’s hospital in the UK. I care for children and adults with rare genetic disorders. I am also the Research Director for 91ֱ�� Children’s Hospital.

Current PhD Opportunities:

PhD applications invited.

Qualifications

06/2023 Fellow of Health Education Academy, Advance HE (FHEA)

10/2016 Fellow of RCPCH: Nominated by Royal College of Paediatric and Child Health (FRCPCH)

12/2012 MD (Doctor in Medicine), Dept of Human Metabolism, University of 91ֱ�� on Osteogenesis Imperfecta

07/2007 Member of Royal College of Paediatric and Child Health (MRCPCH)

06/2004 Diploma in Child Health, Royal College of Paediatrics and Child Health (DCH)

06/2002 Bachelor in Medicine and Bachelor in Surgery (MBBS)

Research interests

My group’s main areas of research currently are in,

Rare bone genetics (NBAS therapy; Novel gene discovery in OI; OI gene therapy; Hypophosphatasia).

Rare neurodevelopmental disorders (Undiagnosed genetic disorders; HNRNPU and ASXL3-related disorder).

Rare bone genetics

1. NBAS Therapy: During studies to identify genes associated with rare osteogenesis imperfecta (OI) phenotypes, we discovered that the same mutations in NBAS (Neuroblastoma Amplified Sequence) known to be associated with acute liver failure in infants were responsible for skeletal abnormalities in patients with OI. This work was published as a novel cause of bone fragility. This discovery provided me the opportunity to use tractable animal (zebrafish) research to advance understanding of the mechanisms by which NBAS exerts its effects, having generated zebrafish models that accurately mimic human disease in order to identify potential new treatments.

2. Novel gene discovery in OI and understanding disease mechanism for non-collagen OI genes: This is a long-standing research interest of mine focused on mining genomics data for new gene discovery working alongside diagnostic colleagues from 100,000 Genomes project for which I lead the bone fragility domain as GeCIP lead and NHS whole genome sequencing. This has led me to identify novel OI genes which are being worked up. An additional area is genes linking brain and bone disease such as Sodium Channelopathies, spermine synthase and SETD5 which I am exploring the causal link and why these disorders cause a bone phenotype.

3. OI Gene therapy: We are working towards developing phenotypic assays to facilitate molecular and cellular characterisation of OI phenotype using iPSC cell lines. We hypothesise that access to disease-relevant cells with patient-specific variants will provide the most representative models of OI, thus allowing us to set up reliable assays for therapeutic discovery. We are deriving iPSCs from our existing banks of OI patients’ fibroblasts and differentiating these into osteoblasts. We plan to set up a phenotypic assay as a proof-of-principle for future high-throughput drug discovery efforts and in-depth mechanistic studies.

4. Family mapping in Hypophosphatasia (FAME Study): The aim of this study is to detect additional symptomatic and asymptomatic HPP patients within affected families, in order to establish a cohort of HPP patients using family mapping and predictive genotyping approach. In addition, we also want to examine the relationship between a pathogenic variant in ALPL and musculoskeletal symptoms and other aspects of general health status.

Genomic Medicine

1. Undiagnosed Genetic Disorders and functional studies This involves mining genomics data for rare phenotypic presentations and discovering candidate genes for novel neurodevelopmental and congenital disorders and identifying additional international patients through interrogation of worldwide genomic datasets using Genematcher and Matchmaker exchange programmes; undertaking functional studies for publication of a novel genes.

2. HNRNPU-related disorder HNRNPU-related disorder is a neurodevelopmental disorder characterised by heterozygous, de novo, loss-of-function variants in HNRNPU. Patients with pathogenic variants in HNRNPU present with seizures, global developmental delay, early onset epilepsy, hypotonia, autistic features, and a variety of anatomical abnormalities and intellectual disability. My group has published the largest HNRNPU patient cohort (Yates et al., 2017; Durkin et al., 2021; Taylor et al., 2022) and now working to understand underlying disease mechanism and engineer therapeutic interventions for HNRNPU syndrome. Knowledge gained from this can act as a model for similar loss-of-function RNDDs and establish 91ֱ�� as a pioneer for this therapeutic approach. We now have a natural history study focused on longitudinal clinical data and sample collection for HNRNPU. We also published a Genereview chapter on clinical diagnosis and management of HNRNPU (Balasubramanian., 2022). Working with ‘Unique’ rare disease patient support group, we have published a patient guide for HNRNPU-related disorder.

3. ASLX3-related disorder, also referred to as Bainbridge-Ropers syndrome, is characterised by developmental delay and intellectual disability caused by heterozygous, de novo pathogenic variants in ASXL3 (Additional Sex Combs-Like 3). Over the last 5 years, my group has published most of the literature on this condition (Balasubramanian et al., 2017; Myers et al., 2018; Schirwani et al., 2019; Schirwani et al., 2021) and published a Genereview chapter on clinical diagnosis and management of the condition (Balasubramanian., 2020). Working with ‘Unique’ rare disease patient support group, we have published a patient guide for ASXL3. We now have a natural history study focused on longitudinal clinical data and sample collection for ASXL3.

Publications

Show: Featured publications All publications

Featured publications

Journal articles

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Nemeth AH, Tofaris GK, Hay E , Hughes I et al (2022) . Neurology, 99(14).
Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel A, Cappuccio G, Brunetti‐Pierri N, Willems M, Isidor B , Park K et al (2022) . American Journal of Medical Genetics Part A.
Thornley P, Bishop N, Baker D, Brock J, Arundel P, Burren C, Smithson S, DeVile C, Crowe B, Allgrove J , Saraff V et al (2021) . Archives of Disease in Childhood.
Durkin A, DeVile C, Arundel P, Bull M, Walsh J, Bishop NJ, Hupin E, Parekh S, Nadarajah R, Offiah AC , Calder A et al (2021) . Journal of Medical Genetics.
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N , Reid E et al (2021) . American Journal of Medical Genetics Part A, 185(11), 3446-3458.
Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, Boy N, Church JA, Crushell E, Dick A , Distelmaier F et al (2021) . Journal of Clinical Immunology, 41(8), 1781-1793.
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB , Fry AE et al (2021) . European Journal of Human Genetics, 29(4), 625-636.
Durkin A, Albaba S, Fry AE, Morton JE, Douglas A, Beleza A, Williams D, Volker‐Touw CML, Lynch SA, Canham N , Clowes V et al (2020) . American Journal of Medical Genetics Part A, 182(7), 1637-1654.
Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J & Stephens DJ (2018) . Journal of Medical Genetics, 55(3), 158-165.
Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF , Shackley F et al (2017) . BONE, 94, 65-74.
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS , Bowen J et al (2016) . Journal of Medical Genetics.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW , Foulds N et al (2015) . Nature Genetics, 47(11), 1363-1369.

Chapters

Balasubramanian M & Schirwani S (2020) ASXL3-Related Disorder
Balasubramanian M (2017) (pp. 1-63). Morgan & Claypool Publishers LLC
Balasubramanian M, Cohen MC & Scheimberg I () , The Pediatric and Perinatal Autopsy Manual (pp. 105-119). Cambridge University Press

All publications

Journal articles

Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R , de Boer E et al (2024) . The American Journal of Human Genetics.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier J-M, Ji W, Ionita C, Roy B, Morrow JS , Darbinyan A et al (2024) . Genetics in Medicine, 26(2), 101023-101023.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M , Bain J et al (2023) . The American Journal of Human Genetics, 110(8), 1414-1435.
Apperley LJ, Albaba S, Dharmaraj P & Balasubramanian M (2023) . Clinical Dysmorphology, 32(1), 43-47.
(2023) . American Journal of Medical Genetics Part A, 191(1), 310-310.
Middleton A, Taverner N, Houghton C, Smithson S, Balasubramanian M & Elmslie F (2022) . European Journal of Human Genetics.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M , Pottie L et al (2022) . The American Journal of Human Genetics.
Sabanathan S, Gulhane D, Mankad K, Davison J, Ong MT, Phadke R, Robinson R, Spiller M, Wakeling E, Ramdas S , Brady AF et al (2022) . Neuromuscular Disorders.
Schirwani S, Woods E, Koolen DA, Ockeloen CW, Lynch SA, Kavanagh K, Graham JM, Grand K, Pierson TM, Chung JM & Balasubramanian M (2022) . American Journal of Medical Genetics Part A.
Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J , Kanani F et al (2022) . American Journal of Medical Genetics Part A.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Nemeth AH, Tofaris GK, Hay E , Hughes I et al (2022) . Neurology, 99(14).
McMahon MH, Tahir N & Balasubramanian M (2022) . BMJ Case Reports, 15(6).
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M , Clayton-Smith J et al (2022) . European Journal of Human Genetics.
Taylor J & Balasubramanian M (2022) . BMJ Case Reports, 15(3).
Woods E, Yates M, Kanani F & Balasubramanian M (2022) . Clinical Dysmorphology.
Natalie B, Michael S & Meena B (2022) . European Journal of Medical Genetics, 65(4).
Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel A, Cappuccio G, Brunetti‐Pierri N, Willems M, Isidor B , Park K et al (2022) . American Journal of Medical Genetics Part A.
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton‐Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R , Johnson DS et al (2022) . American Journal of Medical Genetics Part A, 188(3), 867-877.
Woods E, Spiller M & Balasubramanian M (2022) . American Journal of Medical Genetics Part A, 188(3), 931-940.
Campanini EH, Baker D, Arundel P, Bishop NJ, Offiah AC, Keigwin S, Cadden S, Dall'Ara E, Nicolaou N, Giles S , Fernandes JA et al (2021) . Bone Reports, 15.
Thornley P, Bishop N, Baker D, Brock J, Arundel P, Burren C, Smithson S, DeVile C, Crowe B, Allgrove J , Saraff V et al (2021) . Archives of Disease in Childhood.
Javaid MK, Mordenti M, Boarini M, Sangiorgi L, Westerheim I, Alves I, Skarberg RT, Appelman-Dijkstra NM & Grasemann C (2021) . Orphanet Journal of Rare Diseases, 16(1).
Redman MG, Wagner BE, Cadden S, Baker D, Bowen JM, Johnson D, Sobey G & Balasubramanian M (2021) . Ultrastructural Pathology, 45(6), 414-420.
Durkin A, DeVile C, Arundel P, Bull M, Walsh J, Bishop NJ, Hupin E, Parekh S, Nadarajah R, Offiah AC , Calder A et al (2021) . Journal of Medical Genetics.
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N , Reid E et al (2021) . American Journal of Medical Genetics Part A, 185(11), 3446-3458.
Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, Boy N, Church JA, Crushell E, Dick A , Distelmaier F et al (2021) . Journal of Clinical Immunology, 41(8), 1781-1793.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch Andersen C, Balasubramanian M , Bai R et al (2021) . Clinical Genetics, 100(4), 412-429.
Anderson E, Lam Z, Arundel P, Parker M & Balasubramanian M (2021) . Clinical Genetics, 100(3), 352-354.
Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR , Karczewski KJ et al (2021) . American Journal of Human Genetics, 108(6), 1083-1094.
Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano‐Ozog K, Martinez‐Monseny A, Curry CJ, Graham JM, Velsher L, Bekheirnia MR , Seidel V et al (2021) . Clinical Genetics, 99(4), 547-557.
Desborough R, Nicklin P, Gossiel F, Balasubramanian M, Walsh JS, Petryk A, Teynor M & Eastell R (2021) . Bone, 144.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK , Gallone G et al (2021) . Nature Communications, 12.
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB , Fry AE et al (2021) . European Journal of Human Genetics, 29(4), 625-636.
Redman MG, Wagner BE & Balasubramanian M (2020) . European Journal of Medical Genetics, 63(12).
Yates TM, Campeau PM, Ghoumid J, Kibaek M, Larsen MJ, Smol T, Albaba S, Hertz JM & Balasubramanian M (2020) . Clinical Genetics, 98(6), 622-625.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF , Short PJ et al (2020) . Nature, 586(7831), 757-762.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S , Lattanzi W et al (2020) . Genetics in Medicine, 22(9), 1498-1506.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S , Lattanzi W et al (2020) . Genetics in Medicine, 22(9), 1567-1567.
Apperley LJ, Richmond S, Ramakrishnan R & Balasubramanian M (2020) . Clinical Dysmorphology, 29(3), 155-157.
Durkin A, Albaba S, Fry AE, Morton JE, Douglas A, Beleza A, Williams D, Volker‐Touw CML, Lynch SA, Canham N , Clowes V et al (2020) . American Journal of Medical Genetics Part A, 182(7), 1637-1654.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S , Thomas NS et al (2020) . Genetics in Medicine, 22(6), 1129-1129.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S , Thomas NS et al (2020) . Genetics in Medicine, 22(6), 1005-1014.
Schirwani S, Hauser N, Platt A, Punj S, Prescott K, Canham N, study DDD, Mansour S & Balasubramanian M (2020) . European Journal of Medical Genetics, 63(6).
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, Driscoll MO, Charles P, Cox H , Marey I et al (2020) . Human Mutation, 41(5), 1042-1050.
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard A-M, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T , Maas SM et al (2020) . Human Genetics, 139, 575-592.
Kanani F, Titheradge H, Cooper N, Elmslie F, Lees MM, Juusola J, Pisani L, McKenna C, Mignot C, Valence S , Keren B et al (2020) . American Journal of Medical Genetics Part A, 182(4), 713-720.
Lam Z, Albaba S, Study DDD & Balasubramanian M (2020) . Clinical Dysmorphology, 29(1), 10-16.
Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E , Brookler K et al (2020) . American Journal of Medical Genetics Part A, 182(4), 697-704.
Balasubramanian M, Hobson E, Skae M, McCaughey J & Stephens DJ (2019) . Molecular Genetics & Genomic Medicine, 7(12).
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ , Steeves MA et al (2019) . Nature Communications, 10(1).
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S , Splitt M et al (2019) . The American Journal of Human Genetics, 105(5), 933-946.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ , Lichty AW et al (2019) . Brain, 142(9), 2631-2643.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V , Vargas M et al (2019) . Human Mutation, 40(8), 1013-1029.
Kanani F, Mordekar S, Parker MJ, Study DDD & Balasubramanian M (2019) . Clinical Dysmorphology, 28(3), 158-161.
O’Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM , Azzarello-Burri S et al (2019) . The American Journal of Human Genetics, 104(6), 1210-1222.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL , Pressler RM et al (2019) . The American Journal of Human Genetics, 104(5), 948-956.
Balasubramanian M, Verschueren A, Kleevens S, Luyckx I, Perik M, Schirwani S, Mortier G, Morisaki H, Rodrigus I, Van Laer L , Verstraeten A et al (2019) . Bone, 121, 191-195.
Radley JA, O'Sullivan RBG, Turton SE, Cox H, Vogt J, Morton J, Jones E, Smithson S, Lachlan K, Rankin J , Clayton‐Smith J et al (2019) . Clinical Genetics, 95(4), 496-506.
Schirwani S, McConnell V, Willoughby J & Balasubramanian M (2019) . Gene, 685, 50-54.
Balasubramanian M & Johnson DS (2019) . European Journal of Medical Genetics, 62(2), 109-114.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M , McRae JF et al (2018) . Science, 362(6419), 1161-1164.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ , Steeves MA et al (2018) . Nature Communications, 9(1).
Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M & Scheffer IE (2018) . Epilepsy Research, 147, 121-121.
Kanani F, Study DDD & Balasubramanian M (2018) . Clinical Dysmorphology, 27(4), 113-115.
Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M & Gillett GT (2018) . Molecular Genetics and Metabolism Reports, 16, 12-12.
Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC & Balasubramanian M (2018) . European Journal of Paediatric Neurology.
Balasubramanian M, Fratzl‐Zelman N, O'Sullivan R, Bull M, FA Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P , Klaushofer K et al (2018) . American Journal of Medical Genetics Part A, 176(7), 1578-1586.
Balasubramanian M, Jones R, Milne E, Marshall C, Arundel P, Smith K & Bishop NJ (2018) . Bone Reports, 8, 156-162.
Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M & Gillett GT (2018) . Molecular Genetics and Metabolism Reports, 15, 69-70.
Willoughby J, Duff‐Farrier C, Desurkar A, Kurian M, Raghavan A & Balasubramanian M (2018) . American Journal of Medical Genetics Part A, 176(5), 1049-1054.
Schirwani S, Wakeling E, Smith K & Balasubramanian M (2018) . American Journal of Medical Genetics Part A, 176(5), 1238-1244.
Zarate YA, Smith‐Hicks CL, Greene C, Abbott M, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J , Bosanko K et al (2018) . American Journal of Medical Genetics Part A, 176(4).
Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J & Stephens DJ (2018) . Journal of Medical Genetics, 55(3), 158-165.
Zarate YA, Smith‐Hicks CL, Greene C, Abbott M, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J , Bosanko K et al (2018) . American Journal of Medical Genetics Part A, 176(4), 925-935.
Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M & Scheffer IE (2018) . Epilepsy Research, 140, 166-170.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H , Horton R et al (2018) . The American Journal of Human Genetics, 102(1), 175-187.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao M-C, Chen Z, Balasubramanian M, Barnett CP , Becker TA et al (2018) . The American Journal of Human Genetics, 102(1), 69-87.
Low T, Kostakis A & Balasubramanian M (2018) . Ophthalmic Genetics, 39(2), 286-287.
Schirwani S, Smith K & Balasubramanian M (2017) . Clinical Dysmorphology.
Green C, Willoughby J, Balasubramanian M & Study DDD (2017) . American Journal of Medical Genetics Part A, 173(12), 3165-3171.
Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J & Balasubramanian M (2017) . American Journal of Medical Genetics Part A, 173(11), 3003-3012.
Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA, Mandelstam S, Wirrell E, Nickels KC , Murali HR et al (2017) . Neurology, 89(10), 1035-1042.
Jewell R, Sarkar A, Jones R, Wilkinson A, Martin K, Arundel P & Balasubramanian M (2017) . Clin Dysmorphol.
Webb EA, Balasubramanian M, Fratzl-Zelman N, Cabral WA, Titheradge H, Alsaedi A, Saraff V, Vogt J, Cole T, Stewart S , Crabtree NJ et al (2017) . Journal of Clinical Endocrinology and Metabolism.
McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M , Ambridge K et al (2017) . Nature, 542(7642), 433-438.
Cartwright A, Smith K & Balasubramanian M (2017) . Clinical Dysmorphology, 26(1), 38-40.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W , Pilz D et al (2017) . Journal of Medical Genetics.
Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF , Shackley F et al (2017) . BONE, 94, 65-74.
Marshall C, Lopez J, Crookes L, Pollitt RC & Balasubramanian M (2016) . Gene, 595(1), 49-52.
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS , Bowen J et al (2016) . Journal of Medical Genetics.
Pollitt RC, Saraff V, Dalton A, Webb EA, Shaw NJ, Sobey GJ, Mughal MZ, Hobson E, Ali F, Bishop NJ , Arundel P et al (2016) . Am J Med Genet A.
Marshall CJ, Arundel P, Mushtaq T, Offiah AC, Pollitt RC, Bishop NJ & Balasubramanian M (2016) . Am J Med Genet A.
Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JKH, Hogue J, Slavotinek A, Shetty A & Balasubramanian M (2016) . American Journal of Medical Genetics Part A, 170(7), 1918-1923.
Balasubramanian M, Sobey GJ, Wagner BE, Peres LC, Bowen J, Bexon J, Javaid MK, Arundel P & Bishop NJ (2016) . Ultrastructural Pathology, 40(2), 71-76.
He Y, Balasubramanian M, Humphreys N, Waruiru C, Brauner M, Kohlhase J, O'Reilly R & Has C (2016) . Journal of Investigative Dermatology, 136(5), 1056-1059.
Balasubramanian M, Sithambaram S & Smith K (2016) . Clinical Dysmorphology, 25(1), 19-22.
Balasubramanian M, Cartwright A, Smith K, Arundel P & Bishop NJ (2016) . American Journal of Medical Genetics Part A, 170(2), 476-481.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M , Alibeu O et al (2015) . Nature Neuroscience, 18(12), 1731-1736.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW , Foulds N et al (2015) . Nature Genetics, 47(11), 1363-1369.
Grozeva D, Carss K, Spasic‐Boskovic O, Tejada M, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K , Hussain Z et al (2015) . Human Mutation, 36(12), 1197-1204.
Akilapa RS, Smith K & Balasubramanian M (2015) . Clinical Dysmorphology, 24(4), 151-155.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T , Bevan AP et al (2015) . The Lancet, 385(9975), 1305-1314.
Balasubramanian M, Wagner BE, Peres LC, Sobey GJ, Parker MJ, Dalton A, Arundel P & Bishop NJ (2015) . Clinical Dysmorphology, 24(2), 45-54.
Balasubramanian M, Atack E, Smith K & Parker MJ (2015) . Journal of Human Genetics, 60(6), 313-317.
Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC & Bishop NJ (2015) . American Journal of Medical Genetics Part A, 167(3), 587-591.
(2015) . Nature, 519(7542), 223-228.
Balasubramanian M & Peres LC (2014) . Pediatric and Developmental Pathology, 17(1), 70-72.
Keppler‐Noreuil KM, Sapp JC, Lindhurst MJ, Parker VER, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E , Grant I et al (2014) . American Journal of Medical Genetics Part A, 164(7), 1713-1733.
Balasubramanian M, Shearing E, Smith K, Chavasse R, Taylor R, Tatton-Brown K, Primhak R, Ugonna K & Parker MJ (2014) . American Journal of Medical Genetics Part A, 164(5), 1222-1226.
Atack E, Fairtlough H, Smith K & Balasubramanian M (2014) . Molecular Syndromology.
Balasubramanian M, Sayers R & Martindale J (2014) . Clinical Dysmorphology, 23(4), 127-129.
Balasubramanian M, Jain V, Glover RC, Robertson LK & Mordekar SR (2013) . European Journal of Paediatric Neurology, 17(6), 661-665.
Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK & Mackay DJG (2013) . American Journal of Medical Genetics Part A, 161(9), 2174-2182.
Balasubramanian M, Parker MJ, Dalton A, Giunta C, Lindert U, Peres LC, Wagner BE, Arundel P, Offiah A & Bishop NJ (2013) . Clinical Dysmorphology, 22(3), 93-101.
Balasubramanian M, Bourke S, Crawford N & Cohen MC (2012) . Pediatric and Developmental Pathology, 15(6), 478-486.
Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A & Bishop NJ (2011) . American Journal of Medical Genetics Part A, 155(6), 1414-1418.
Balasubramanian M, Smith K, Mordekar SR & Parker MJ (2011) . European Journal of Medical Genetics, 54(3), 314-318.
Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ , Friedman N et al (2011) . Journal of Medical Genetics, 48(5), 290-298.
Balasubramanian M, Peres LC & Pelly D (2011) . Clinical Dysmorphology, 20(1), 47-49.
Balasubramanian M, Terron-Kwiatkowski A, Shah M, Wagner BE, Mechan D, Baty D & Sobey GJ (2010) . Expert Review of Dermatology, 5(5), 519-523.
Balasubramanian M, Sprigg A & Johnson DS (2010) . American Journal of Medical Genetics Part A, 152A(12), 3138-3142.
Balasubramanian M, Shield JPH, Acerini CL, Walker J, Ellard S, Marchand M, Polak M, Vaxillaire M, Crolla JA, Bunyan DJ , Mackay DJG et al (2010) . American Journal of Medical Genetics Part A, 152A(2), 340-346.
Balasubramanian M & Parker MJ (2010) . Clinical Dysmorphology, 19(1), 48-50.
Balasubramanian M & Collins AL (2009) . European Journal of Medical Genetics, 52(4), 234-238.
Balasubramanian M, Barber JCK, Collinson MN, Huang S, Maloney VK, Bunyan D & Foulds N (2009) . American Journal of Medical Genetics Part A, 149A(4), 793-797.
Anbuselvam C, Vijayavel K & Balasubramanian MP (2007) . Chemico-Biological Interactions, 168(3), 229-236.
Vijayavel K, Gopalakrishnan S, Chezhian A & Balasubramanian MP (2007) . Toxicological & Environmental Chemistry, 89(2), 353-361.
Vijayavel K & Balasubramanian MP (2007) . Ecotoxicology and Environmental Safety, 66(2), 154-158.
Vijayavel K, Gopalakrishnan S, Thilagam H & Balasubramanian MP (2006) . Science of The Total Environment, 372(1), 157-163.
Vijayavel K, Rani EF, Anbuselvam C & Balasubramanian MP (2006) . Pesticide Biochemistry and Physiology, 86(3), 157-161.
Vijayavel K, Anbuselvam C & Balasubramanian MP (2006) . Chemico-Biological Interactions, 163(1-2), 170-175.
Vijayavel K, Anbuselvam C, Balasubramanian MP, Deepak Samuel V & Gopalakrishnan S (2006) . Ecotoxicology, 15(5), 469-476.
Vijayavel K & Balasubramanian MP (2006) . Chemosphere, 63(9), 1523-1531.
Ramakrishnan M, Elumalai M, Jayakumar R & Balasubramanian MP (1999) Phosphomonoesterase activity in different stages of Moniezia expanza (Cestoda). Cytobios, 1999(388), 71-75.
Ramakrishnan M, Elumalai M, Jayakumar R & Balasubramanian MP (1999) Influence of distillery effluent on feeding energetics of freshwater fish in relation to water temperature. Cytobios, 1999(389), 175-187.
Elumalai M, Jayakumar R & Balasubramanian MP (1999) Impact of monocrotophos on protein and carbohydrate metabolism in different tissues of albino rats. Cytobios, 1999(389), 131-136.
Elumalai M & Balasubramanian MP (1999) . Bulletin of Environmental Contamination and Toxicology, 62(6), 743-748.
Elumalai M, Balasubramanian SE & Balasubramanian MP (1998) . Bulletin of Environmental Contamination and Toxicology, 60(1), 22-29.
Rani EF, Elumalai M & Balasubramanian MP (1997) The toxicity of combinations of monocrotophos and ammonium chloride to Oreochromis mossambicus. Biomedical Letters, 55(219-220), 193-198.
Ahmed MR, Elumalai M, Balasubramanian SE & Balasubramanian MP (1997) Individual and combined effect of copper and chromium on oxygen consumption and phosphatases of a marine edible crab, Scylla serrata. Biomedical Letters, 55(219-220), 147-152.
Elumalai M & Balasubramanian MP (1997) . Bulletin of Environmental Contamination and Toxicology, 59(6), 989-993.
Elumalai M, Felista Rani E & Balasubramanian MP (1996) Effect of naphthalene on phosphatases and esterase in muscle and testes of male Scylla serrata. Biomedical Letters, 54(213), 39-43.
Balasubramanian MP, Dhandayuthapani S, Nellaiappan K & Ramalingam K (1984) . Journal of Helminthology, 58(2), 101-104.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M , Lowenstein DH et al () . Epilepsia.
Woods E, Holmes N, Albaba S, Evans IR & Balasubramanian M () . Clinical Genetics.
Lee S, Ochoa E, Badura-Stronka M, Donnelly D, Lederer D, Lynch SA, Gardham A, Morton J, Stewart H, Docquier F , Rodger F et al () . European Journal of Human Genetics.
Pagnamenta AT, Yu J, Evans J, Twiss P, Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF & Taylor JC () . Journal of Medical Genetics.
Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR , Karczewski KJ et al () .
Jones R, Seasman A, Marr C, Bishop N, Arundel P, Balasubramanian M & Team MB () . Bone Abstracts.
Balasubramanian M, Baxendale S & Roehl H () . Bone Abstracts.
Kanani F, Parker MJ, Burren CP, Rankin J & Balasubramanian M () . American Journal of Medical Genetics Part A.
Balasubramanian M, Padidela R, Pollitt R, Bishop N, Mughal Z, Offiah A, Wagner B, McCaughey J & Stephens D () . Bone Abstracts.
Sithambaram S, Bishop N, Shankar L, Offiah AC, Pollitt RC, Balasubramanian M, Saggar AK & Arundel P () . Bone Abstracts.
Webb E, Balasubramanian M, Fratzl-Zelman N, Titheradge H, Cole T, Stewart S, Crabtree N, Cabral WB, Owens B, Roschger P , Klaushofer K et al () . Endocrine Abstracts.
Smith K, Williams S, Griffiths P, Parker M, Mordekar S & Balasubramanian M () . Journal of Pediatric Genetics, 01(04), 247-252.
Webb E, Balasubramanian M, Cole T, Stewart S, Crabtree N, Vogt J, Roschger P, Fratzl-Zelman N, Klaushofer K & Hogler W () . Bone Abstracts.
Balasubramanian M & Bishop N () . Bone Abstracts.
Balasubramanian M & Bishop N () . Bone Abstracts.
Meena B, Michael P & Nicholas JB () . Bone Abstracts.

Chapters

Balasubramanian M (2024) , Genomic and Molecular Cardiovascular Medicine (pp. 181-189). Elsevier
Balasubramanian M (2024) , Genomic and Molecular Cardiovascular Medicine (pp. 181-189). Elsevier
Balasubramanian M & Schirwani S (2020) ASXL3-Related Disorder
Balasubramanian M (2017) (pp. 1-63). Morgan & Claypool Publishers LLC
Balasubramanian M, Cohen MC & Scheimberg I () , The Pediatric and Perinatal Autopsy Manual (pp. 105-119). Cambridge University Press

Conference proceedings papers

Godfrey M, Levy M, Leonardi E, Campbell C, Demain L, Jenkinson S, Hilton S, Almoguera Castillo B, Balasubramanian M, Bijlsma EK , Burkitt-Wright E et al (2024) CHD8 missense variants cause a variable neurodevelopmental disorder with incomplete penetrance. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 32 (pp 721-721)
Cebe T, Balasubramanian M, Green N & Reilly G (2023) ELUCIDATION OF COLLAGEN FIBRE STRUCTURE IN OSTEOGENESIS IMPERFECTA USING SECOND HARMONIC GENERATION IMAGING ON POLYCAPROLACTONE FIBRES. TISSUE ENGINEERING PART A, Vol. 29(11-12) (pp 953-953)
Rots D, Yamada A, Foroutan A, McCon-Key H, Kerkhof J, Alders M, Maystadt I, Holden S, Balasubramanian M, Merla G , San-Ten G et al (2023) Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesis. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 31 (pp 456-457)
Blaschitz A, Rao AA, Castiglioni C & Balasubramanian M (2023) Heterozygous mutations in SETD5 are associated with bone fragility. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96 (pp 479-480)
Griffin M, Balasubramanian M, Blyth M, Dixit A, Turnpenny PD & Suri M (2022) Deep phenotyping of biallelic HACE1 variants. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 30(SUPPL 1) (pp 280-281)
Cebe T, Balasubramanian M, Green N & Reilly G (2022) VISUALIZATION OF COLLAGEN FIBRE STRUCTURE IN OSTEOGENESIS IMPERFECTA USING SECOND HARMONIC GENERATION IMAGING ON POLYCAPROLACTONE SCAFFOLD. TISSUE ENGINEERING PART A, Vol. 28 (pp S601-S602)
Quarrell OW, Rautengarten C, Stals K, Caswell R, De Franco E, Baple E, Burgess N, Jokhi R, Hazelwood JL, Offiah AC , Ebert B et al (2019) . European Journal of Human Genetics, Vol. 27 (pp 1298-1299). Gothenburg, Sweden, 15 June 2019 - 18 June 2019.
Kanani F, Titheradge H, Cooper N, Elmslie F, Lees M, Juusola J, Pisani L, Mignot C, Valence S, Keren B , Guella I et al (2019) . European Journal of Human Genetics, Vol. 27(Supplement 2) (pp 1471-1472). Gothenburg, Sweden, 15 June 2019 - 18 June 2019.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Balasubramanian M, Morton JEV, Weber A, Wilson LC , Johnson D et al (2019) BMP2 or not BMP2? A SMAD6-related question in craniosynostosis. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 27 (pp 1277-1278)
Peacock A, Offiah AC, Balasubramanian M, Bishop N & Arundel P (2019) . Bone Abstracts, Vol. 7. Salzburg, Austria, 22 June 2019 - 25 June 2019.
Low T, Kostakis A & Balasubramanian M (2018) Compound heterozygous variants in IFT140 as a cause of non-syndromic Retinitis Pigmentosa. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 26 (pp 851-851)
Zarate YA, Gambello M, Pandya A, Saenz M, Siu VM, Ray J, Sellars E, Sun A, Smith W, Robin NH , Picker J et al (2018) PHENOTYPE AND NATURAL HISTORY IN 49 INDIVIDUALS WITH SATB2- ASSOCIATED SYNDROME. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol. 176(6) (pp 1526-1527)
Balasubramanian M, Hurst J, DeVile C, Bishop N, Arundel P, Offiah A, Pollitt R, Hughes D, Longman D, Caceres J & Skerry T (2017) . Bone Abstracts, Vol. 6(2017). Bristol, UK, 10 June 2017 - 13 June 2017.
He Y, Yalcin E, Balasubramanian M, O'Reilly R, Bruckner-Tuderman L & Has C (2015) Molecular mechanism underlying interstitial lung disease, nephrotic syndrome and epidermolysis bullosa. JOURNAL OF INVESTIGATIVE DERMATOLOGY, Vol. 135 (pp S59-S59)
Balasubramanian M, Bourke S, Crawford N & Cohen M (2011) Referral to Clinical Genetics following post modem examination in foetal losses. JOURNAL OF MEDICAL GENETICS, Vol. 48 (pp S58-S58)
Balasubramanian M, Johnson DS & Sobey GJ (2009) Blue rubber bleb naevus syndrome- severe presentation in a neonate. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S60-S60)
Balasubramanian M & Johnson DS (2009) Previously unreported feature in IMAGe Syndrome: Case discussion and review of published literature. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S60-S60)
Balasubramanian M & Collins AL (2009) Audit on Genetics Ward Round- Wessex Experience. JOURNAL OF MEDICAL GENETICS, Vol. 46 (pp S58-S58)
Balasubramanian M & Quarrell OW (2008) Update of a unique case report by Tandon et al- Clefting with irido-retinochoroidal coloboma and skeletal abnormalities. JOURNAL OF MEDICAL GENETICS, Vol. 45 (pp S37-S37)
Balasubramanian M & Johnson DS (2008) Cutis aplasia, cardiac anomaly and abnormalities of portal vasculature: varying presentation in Adams Oliver Syndrome. JOURNAL OF MEDICAL GENETICS, Vol. 45 (pp S38-S38)
Balasubramanian M & Collins A (2008) Aplasia cutis congenita, terminal limb defects and bilateral closed lip schizencephaly- a variant of Adams-Oliver Syndrome. JOURNAL OF MEDICAL GENETICS, Vol. 45 (pp S37-S37)
Vijayavel K & Balasubramanian MP (2006) . Ecotoxicology and Environmental Safety, Vol. 63(1) (pp 141-147)

Other

Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ , Steeves MA et al (2019) . Nature Communications, 10(1).

Preprints

Low KJ, Foreman J, Hobson RJ, Kwuo H, Martinez-Cayuelas E, Almoguera B, Marin-Reina P, Caraffi SG, Garavelli L, Woods E , Balasubramanian M et al (2024) , Cold Spring Harbor Laboratory.
Copeland H, Low KJ, Wynn S, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L , Bucknall C et al (2023) .
Balasubramanian M, Lee S, Ochoa E, Badura-Stronka M, Donnelly D, Lederer D, Lynch S, Gardham A, Morton J, Stewart H , Docquier F et al (2023) , Research Square Platform LLC.
Balasubramanian M, Lam Z, Brooksbank L, Crookes R, Offiah A, Arundel P & Bishop N () .
McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M , Ambridge K et al () , Cold Spring Harbor Laboratory.

Research group: My group is working on two main research areas: Rare Bone Disorders and Rare Neurodevelopmental Disorders

1. Rare Bone Disorders (RBD)

I am working on two RBDs: Osteogenesis Imperfecta (OI) and Hypophosphatasia (HPP). I am currently pursuing an MRC Fellowship on developing zebrafish disease models for bone fragility and developing targets for therapeutic intervention having set up ‘Balasubramanian lab’ at Bateson Centre, University of 91ֱ��.

I lead inter-disciplinary bone genetics research: deep phenotyping (first Musculoskeletal NIHR Rare Disease Translational Research collaboration grant), fracture risk prediction models; genomics in OI and awarded grants by Brittle Bone Society in their first ever research call to study OI health economics and patient diagnostic journey and BRONE Study studying brain and bone association.

2. Rare Neurodevelopmental Disorders (RNDDs)

In the area of paediatric genomic medicine, my research is focused 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. I am considered one of the world-leading experts on these disorders and have published national and international guidelines on diagnosis, management and ongoing surveillance for such disorders including ASXL3-related disorder, HNRNPU-related neurodevelopmental disorder, and SIN3A-related disorder. I am also working on developing gene therapy for rare neurodevelopmental disorders (RNDDs) and recently secured funding from The Children’s Hospital Charity and LifeArc to work on preliminary data collection for this proposal.

PhD Students:

2023               PhD (N Supari), Variants of uncertain significance: OI
2023               PhD (D Aiyedun), HNRNPU-related disorder
2023               PhD (N Kelly), Gene therapy in OI (MRC DiMEN)
2022               MD (E Woods), ASXL3-related syndrome
2020               PhD (T Cebe), Collagen orientation in OI

Grants

Key Research Grants as Lead Investigator:

SCYPHeR Initiative, UoS Knowledge Exchange Funding, 2023
SkelFish Study, The Children’s Hospital Charity, 2023
HNRNPU toward developing gene therapy, The Children’s Hospital Charity and LifeArc Pathfinder Scheme, 2022
Unravelling role of NBAS in skeletal development, MRC, 2021
Family mapping in HPP study, Alexion Pharmaceuticals, 2021
High bone mass Osteogenesis Imperfecta Study, Charlie Veale Research Award, 2017
Assessing the Balance of Cost and Determining the Experiences of Families in Paediatric Osteogenesis Imperfecta Healthcare (ABCD Study), Brittle Bone Society Research Grants, 2017

Complementary Analyses Proposals (Deciphering Developmental Disorders Study- Sanger Institute, Cambridge) .
- XPO1 as a novel cause of congenital anomaly disorder including intellectual disability [#356]
- SP4 as a novel cause of congenital anomaly disorder including intellectual disability [#346]
- TAOK1-related neurodevelopmental disorder [#347]
- Genotype-phenotype correlation in USP7 (Hao-Fountain Syndrome) [#336]
- ZFHX4-Related Developmental Disorder [#337]
- SIN3A: Genotype-phenotype correlation [#282]
- Expanding the phenotype of TAB2 variants [#279]
- Genotype-phenotype correlation in NSDHL [#268]
- Genotype-phenotype correlation in YWHAG [#267]
- Study of patients with Joubert syndrome and CC2D2A variants [#263]
- Expansion of the movement disorder phenotype in SCN2A-related disease [#262]
- Study of patients with MAN1B1 mutations [#249]
- Genotype-phenotype correlation in ASXL3 (Bainbridge-Ropers syndrome) [#130]
- Genotype-phenotype correlation in NBAS [#143]
- Cole-Carpenter syndrome CRTAP [#96]
- Novel mechanisms causing Osteogenesis Imperfecta [#12]
- Hypophosphatasia and ALPL mutations [#213]
- Genotype-phenotype correlation in ATP1A3 [#135]
- Genotype-phenotype correlation in HNRNPU [#204]
- Genotype-phenotype correlation in IQSEC2 [#267]
- Genotype-phenotype correlation in VLDLR [#2197]
- Genotype-phenotype correlation in SRPX2 [#221]
- Genotype-phenotype correlation in LAMP2 [#228]

Co-Investigator:

Osteostem study (CI: Dr Barbaric, University of 91ֱ��).
Sensory profiles in genetic syndromes associated with autism (CI: Dr Freeth, University of 91ֱ��).
91ֱ�� PI for PregCare Study (CI: Prof Goriely and Prof Wilkie, University of Oxford); Additional findings study (CI: Prof Chitty and Dr Hill, UCL); Patient experience in WGS (CI: Dr Lewis, UCL); Splicing study (CI: Prof Baralle, University of Southampton).

Teaching interests

Postgraduate University Courses/ Teaching:

MSc Teaching:

MMedSci Advance Clinical Practice: Genetics session
MSc Workplace modules (MED680)
MSc Endocrinology lecture on rare disease genetics
MSc in Human and Molecular Genetics (Module on Genetics in Human Disease)
University of 91ֱ�� MSc Genomic Medicine lectures (MED670)

MSc Project Supervision:

2023               MSc Molecular Biology and Biotechnology
2023               MSc Neuroscience and Advanced Therapies
2023               MSc Scientist Training Programme
2022               Summer Internship, University of Applied Sciences in Weihenstephan-Triesdorf, Freising, Germany
2020               MSc Genomic Medicine
2020               MSc Genomic Medicine, UCL

Undergraduate Teaching:

I am the MBChB Medical Careers Theme Lead (Aug’23 onwards). In this role, I am providing strategic oversight to develop the careers strategy for AUME and ensure this aligns with the University pillars. I am leading on a project embedding mySkills into the MBChB curriculum and working with the AUME Directors and core group to ensure career theme is implemented consistently

My formal teaching also includes,

1st and 3rd year University of 91ֱ�� medical students’ Paediatric lectures
ILA Facilitator, Phase 1 MBChB
I participate in MBChB formative and summative assessments and clinic teaching.
I participate in the Medical Student interviews (MMI)
Assessor for SSC History of Medicine
I contribute regularly to Phase 2a MBChB SBA question banks
3-week Clinical Genetics placements for MBChB students with excellent feedback with most returning to do projects with me.
SSC placements and BSc Intercalating student supervision

Specialist Courses:

I deliver at least 6-7 invited lectures every year for post-graduate students/ doctors on Osteogenesis Imperfecta and rare bone genetics (National Genetics Trainee Day/ All Wales Genetics Service Training Day/ Pan Thames Skeletal Dysplasia Teaching/ Yorkshire and Humber Teaching Day to name a few)
I provide national and international teaching for Genetics trainees on ‘Osteogenesis Imperfecta’ and ‘Atypical Bone Fragility’ (Belgian Rheumatology Association)
I provide post-graduate genetics teaching to paediatric trainees (STEPP teaching) for Yorkshire and Humber Deanery and invited by several sub-specialities to give lectures on their organised study days on Genomic medicine (this includes Paediatric Endocrinology, Ophthalmology, and Paediatrics in peripheral hospitals)
I am actively involved in teaching Paediatric trainees for MRCPCH and DCH examinations
Deliver lectures in India at the International Birth Defects Conference, JSS University, Mysuru and Apollo Institute, New Delhi

Professional activities and memberships

International

Rare Bone Disease European Reference Network Working Group 1 (Diagnostic Challenges) Co-leader (BOND ERN)- 2017-2021. Steering group member for BOND ERN- 2017-2021
2018: I set out & presented White Paper on current status of OI diagnosis & improving patient pathways at European Parliament

National

Clinical Genetics Society (UK) - Secretary
British Society of Genomic Medicine
Skeletal Dysplasia Group
Royal College of Paediatrics and Child Health
General Medical Council

Patient support groups Medical Advisory Board (MAB)

Medical and Scientific Advisory Board Member, HNRNP international support group (2022-)
Medical Advisory Board Member, Brittle Bone Society (2019-)
Scientific Advisory Committee member, 91ֱ�� Children's Hospital Charity (2018-)

I set up and lead the ‘North East and Yorkshire Genomic Research Network’ with inaugural meeting in June 22 to encourage genomics research across the NEY region in collaboration with academic universities (University of Newcastle, 91ֱ��, Leeds, York and Bradford), Genomic Laboratory Hubs and Genomics Medicine Service Alliance working with Genomics England.

NHS Genomic Medicine Service Alliance North East Yorkshire (NEY) Research Director (2020-) The NHS Genomic Medicine Service (GMS) Research Collaborative has been brought together as part of the NHS Long Term Plan aim to support research and development by facilitating genomic research on a national scale and ensure alignment with national research aims to deliver better outcomes for patients both now and in the future. The NHS GMS Research Collaborative is a partnership between the NHS GMS, Genomics England and the National Institute of Health Research (NIHR).

A key aim of the NHS GMS is to support research and development, including the development of a single genomic knowledgebase to allow research on a national scale, and ensure alignment with national research aims. The NHS GMS Research Collaborative provides a forum through which NHS England and NHS Improvement, NHS Genomic Laboratory Hubs, NHS GMS Alliances, Genomics England and the National Institute for Health Research work in partnership to facilitate high-quality genomic research on a national scale.

I am the NEY NHS GMSA Research Director with my role focused on promoting genomic research in our region across the academic institutions in the region (University of Newcastle, Leeds, 91ֱ��, York and Bradford) and NHS organisations across the region.

Leadership Activities

2023 - Clinical Director of Research, SCH
2023 - Founding Director, 91ֱ�� Children & Young People Health Research (SCYPHeR) Initiative between 91ֱ�� Children’s Hospital, 91ֱ�� Hallam University and University of 91ֱ��
2022 - Impact Lead, Division of Clinical Medicine, UoS
2023 - REF Reviewer, Oncology & Metabolism, UoS -
2022 - Athena SWAN SAT Committee Member, Athena SWAN Organisation and Culture sub-group Committee Member
2021-2023 - Research Director, NHS North East Yorkshire (NEY),Genomic Medicine Service Alliance

Patient information leaflets

2020-21: Genetics in OI; pregnancy in OI leaflets

2019-20:

2013-20: Unique guides for these genetic disorders- , , , , ; & deletion syndrome (); NORD guides for ,

91ֱ��

School of Medicine and Population Health

School of Medicine and Population Health

Dr Meena Balasubramanian

Current PhD Opportunities:

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