People
Dr Meena Balasubramanian
Senior Clinical Lecturer in Musculoskeletal Genetics, University of Sheffield
Clinical Director for Research, Sheffield Children's Hospital NHS Foundation Trust
Executive Director, SCYPHeR (Sheffield Children and Young People Health Research) Initiative
Honorary Consultant Clinical Geneticist, Sheffield Children's NHS Foundation Trust
NIHR RDN Children's Speciality Lead, Yorkshire and Humber Region
NIHR Clinical Academic Training Lead- Clinical Genomics, University of Sheffield
Lead Consultant Bone Geneticist for the nationally-commissioned Osteogenesis Imperfecta service in England
I completed my Paediatric training before undertaking specialist training in Clinical Genetics in Southampton and Sheffield. My MD is on atypical presentation of Osteogenesis Imperfecta (OI) obtained from the University of Sheffield in 2012, where I am now a Senior Clinical Lecturer in Musculoskeletal Genetics. I have been a Consultant in Clinical Genetics at Sheffield Children’s Hospital since 2012 and provide genetics input to the national OI service, seeing patients referred across UK. I have led several projects focused on genetics of OI and am pursuing research projects focussed on identifying novel genetic causes in OI and exploring newer targets for therapy for OI. I have been the Clinical Director for Research at Sheffield Children’s Hospital since 2023 and oversee a diverse portfolio of clinical research.
I am the Founding Director of and Rare Disease lead for South Yorkshire Children and Young People’s Health Research (SCYPHeR), a collaboration between University of Sheffield, Sheffield Children’s Hospital and Sheffield Hallam University. SCYPHeR aims to empower the next generation of child health researchers and create a more collaborative approach to research in the region.
My research interests include in-depth phenotyping of rare bone diseases through skin and bone tissue analyses combined with detailed clinical phenotyping and molecular genotyping. Advances in genomic medicine has led to increased use of next generation sequencing to identify new candidate genes and explore their phenotypic associations. I am the Bone fragility lead for the Genomic Clinical Interpretation Partnership (GeCIP), which is part of the 100,000 Genomes project initiative to establish genetic causes of rare diseases in UK. I work across faculties in Sheffield, including projects with INSIGNEO on digital disease phenotyping as well as identifying new targets for treating bone fragility in industry. I have close links with clinicians in other regional metabolic and genetic centres and patient support groups including Brittle Bone Society. Several of my research outputs have led to changes in diagnostic and clinical practice in rare bone diseases and neurodevelopmental disorders.
My other areas of specialism include Genetics in autism & Paediatric Dysmorphology. I have published over 40 first and senior-author publications in these areas and text books including a recent molecular medicine series on OI. In total, I have published 128 original peer reviewed articles and have an h-index of 28.
ORCID: 0000-0003-1488-3695
Dr Emily Cottrell
Bicentennial Clinical Research Fellow
I am a Paediatrician by background and have always been fascinated by genetics. My PhD research focused on identifying novel genetic causes of growth failure in childhood. I performed bioinformatic analysis to identify novel genetic variants of interest in patients without a genetic diagnosis. I then functionally assessed these variants using a range of laboratory techniques including fibroblast culture, transient transfection, Gibson assembly, splicing assays and site directed mutagenesis.
My current role as a Bicentennial Clinical Research Fellow focuses on HNRNPU-related neurodevelopmental disorder, a rare genetic condition causing developmental delay and seizures in childhood. I am collating data for a natural history study to better understand the phenotype-genotype correlation and the seizure and growth features of the condition. I am also building the AAV HNRNPU vector that will provide preliminary data for development of the first in-human gene therapy for HNRNPU-related neurodevelopmental disorder.
ORCID: 0000-0001-6773-6547
Dr Daniel Baird
Postdoctoral Research Associate
I am a Postdoctoral Research Associate working on improving the understanding of skeletal, collagen and vascular syndromes, including vascular Ehlers-Danlos syndrome (vEDS). My work will involve generating zebrafish knock-out and patient mutation knock-in models with CRISPR-Cas9, and then characterising these lines using a variety of molecular, immunofluorescent and microscopy techniques. This will allow us to decipher how genetic mutations can result in serious multi-system syndromes. Using our characterised zebrafish models of disease, we will perform drug screening protocols to identify new therapies for these syndromes, with the aim of improving the quality of life for these patients.
I have recently completed my PhD from the University of Copenhagen, where I investigated the role of ciliary signaling in cardiovascular development and disease using zebrafish models.
ORCID: 0009-0004-5711-302X
Zuzanna Matelowska
Research Technician
My role as a research technician encompasses a variety of responsibilities; from conducting research to maintaining the lab. My research focuses on rare bone disorders, where I generate zebrafish models that replicate the disease phenotype and work on identifying potential drug candidates to reverse behavioural and phenotypic changes caused by mutations.
I began my research in the Balasubramanian research group as a Master’s student.
My MSc research project focused on developing a stable knock-in zebrafish model of Cole-Carpenter syndrome and characterising our nbasR1914H and nbassa16290 zebrafish lines. My investigation of the skeletal phenotype helped establish a drug screening readout for the next phase of the project.
✉️z.matelowska@sheffield.ac.uk
Haziqah Supari
PhD student
I am a PhD student working on the molecular basis of osteogenesis imperfecta (OI). My project focuses on variants of uncertain significance (VUS) in two collagen genes, COL1A1 and COL1A2. Firstly, I worked on data mining and re-analysis of VUS from diagnostic data of OI patients from Sheffield Diagnostic Genetics Service. I started my work on the OI zebrafish model in September 2024. Thereafter, we will try to generate CRISPR/Cas9 knock in zebrafish lines from the VUS that we selected from the diagnostic data of OI patients. Characterisation and comparison between the existing OI lines and our lines and test for the collagen assay to prove pathogenicity of the VUS.
Daniel Aiyedun
PhD student
I am a PhD student working towards creating the first gene therapy for HnRNPU-syndrome related seizures. My project aims to identify and characterize the alterations in gene expression that arise in neurons derived from HNRNPU patient-derived induced pluripotent stem cells (iPSCs) using single-cell RNA seq and proteomics, examine the consequences of altered gene expression on neuronal function using patch clamp electrophysiology, and then develop a gene therapy approach for the syndrome. My research interests fall within the realm of the creation of gene therapies for regenerative medicine, bioengineering and biotechnology for the space industry.
Alana Hodgson
Medical student
In my role as a fourth-year medical student, I have been involved in characterising the seizure phenotype associated with HNRNPU variants. Working within Dr. Balasubramanian's lab, we've been able to collate clinical data from patients across the globe in a HNRNPU phenotype paper, with our team's work being presented to both UK and US clinicians and scientists. This research has the potential to improve the diagnosis and treatment of individuals with HNRNPU-related epilepsy.
Nick Kelly
PhD student
I am a PhD student exploring gene therapy approaches for Osteogenesis Imperfecta (OI), particularly for variants in the collagen genes COL1A1 and COL1A2. My current research focuses on creating an in vitro model of OI through osteogenic differentiation of patient-derived induced pluripotent stem cells (iPSCs) to represent the disease phenotype. Given that current treatments for OI primarily manage symptoms rather than addressing the genetic root, and due to the wide variety of OI-related mutations in collagen genes, my aim is to investigate whether a broad-spectrum CRISPR/Cas9 gene editing approach could offer an effective therapeutic option regardless of specific COL1A1/A2 mutations. My research may provide support for alternative approaches to OI treatment. My interest in cell and gene therapies was sparked by my previous roles in hospital pharmacy aseptics.
Ilona Bognar
PhD student
I am a PhD student at the University of Sheffield's School of Chemical, Materials and Biological Engineering, where I am developing a 3D in vitro bone model to investigate the effects of osteogenesis imperfecta on collagen organisation and mineral nucleation. My research combines advanced biotechnologies, including the fabrication of electrospun polycaprolactone scaffolds and the development and use of CRISPR/Cas9-modified human mesenchymal stem cell lines, which are subsequently guided to become bone matrix-forming osteoblasts. To visualise the complex organisation of collagen fibres within these constructs, second harmonic generation microscopy is used, providing detailed 3D imaging insights into collagen structure and arrangement.
Dr Emily Woods
Clinical Geneticist and MD student
Emily is a Clinical Geneticist in training whose MD is focused on expanding the phenotype of ASXL3-related disorder. She has a paediatric background and works on a number of rare diseases. Her specialist interest is on Bainbridge-Ropers syndrome and genotype-phenotype correlation in ASXL-related conditions.
Louise Baxandall
Trainee Clinical Scientist
Louise is a Trainee Clinical Scientist specialising in Genomics, she is investigating the effect of missense variants in HNRNPU-Related Neurodevelopmental Disorder.