Dr Emily Cottrell

MBChB (Hons), MRCPCH, PGCert (Merit), FHEA, PhD

Clinical Medicine, School of Medicine and Population Health

Bicentennial Research Fellow (Clinical)

Honorary Fellow in Clinical Genetics, Sheffield Children’s NHS Foundation Trust

e.cottrell@sheffield.ac.uk

D39, Firth Court

Full contact details

Dr Emily Cottrell
Clinical Medicine, School of Medicine and Population Health
D39
Firth Court
Western Bank
Sheffield
S10 2TN

Profile

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

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.

Qualifications

MBChB (Honours), University of Manchester, 2012
MRCPCH, Royal College of Paediatrics and Child Health, 2016
Postgraduate Certificate in Clinical Education, University of Leeds, 2017. Now recognised as a Fellow of the Higher Education Academy (FHEA)
PhD ‘Characterising novel genetic causes of growth failure,’ Queen Mary University London, awarded 2023

Research interests: My research interests are rare genetic disease, bioinformatic analysis and in silico prediction models, functional analysis of novel genetic variants and developing novel therapeutic strategies for paediatric genetic conditions. I am also interested in clinical trial delivery and recently completed a 6 month period as NIHR Associate Primary Investigator on the SurfON neonatal clinical trial.

Publications

Show: Featured publications All publications

Featured publications

Journal articles

Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D, Clement-de Boers A, Brooks AS , Aguirre GA et al (2024) Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome. JCI Insight, 9(6). View this article in WRRO
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB, Metherell LA, McCormick PJ & Storr HL (2023) Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature. European Journal of Endocrinology, 188(4), 353-365.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M , Pignata C et al (2022) Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity. The Journal of Clinical Endocrinology & Metabolism, 107(1), e401-e416.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O’Toole S , Goodchild E et al (2021) Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature Genetics, 53(9), 1360-1372.
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R , Didi M et al (2021) Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes. The Journal of Clinical Endocrinology & Metabolism, 106(11), e4716-e4733.
Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage MO, Bossowski AT & Storr HL (2021) The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome. Journal of Endocrinological Investigation, 44(6), 1331-1334.
Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L, Deeb A, Basiri IA , Rose SJ et al (2020) Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. European Journal of Endocrinology, 183(6), 581-595. View this article in WRRO
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA & Storr HL (2020) GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. Endocrine Connections, 9(3), 211-222.

All publications

Journal articles

Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D, Clement-de Boers A, Brooks AS , Aguirre GA et al (2024) Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome. JCI Insight, 9(6). View this article in WRRO
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB, Metherell LA, McCormick PJ & Storr HL (2023) Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature. European Journal of Endocrinology, 188(4), 353-365.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M , Pignata C et al (2022) Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity. The Journal of Clinical Endocrinology & Metabolism, 107(1), e401-e416.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O’Toole S , Goodchild E et al (2021) Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature Genetics, 53(9), 1360-1372.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M , Pignata C et al (2021) Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.. J Clin Endocrinol Metab.
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R , Didi M et al (2021) Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes. The Journal of Clinical Endocrinology & Metabolism, 106(11), e4716-e4733.
Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage MO, Bossowski AT & Storr HL (2021) The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome. Journal of Endocrinological Investigation, 44(6), 1331-1334.
Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L, Deeb A, Basiri IA , Rose SJ et al (2020) Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. European Journal of Endocrinology, 183(6), 581-595. View this article in WRRO
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA & Storr HL (2020) GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. Endocrine Connections, 9(3), 211-222.

Conference proceedings papers

Cottrell E, Chatterjee S, Moore G, Ishida M, Greening J, Wright N, Bossowski A, Deeb A, Al Basiri I, Rose S , Mason A et al (2018) Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype. HORMONE RESEARCH IN PAEDIATRICS, Vol. 90 (pp 105-105)

Research group: I am a member of the Balasubramanian Research Group, led by Professor Meena Balasubramanian and the Wilson Research Group, led by Professor Stuart Wilson.

Teaching interests

I am very enthusiastic about teaching and have held several teaching roles during my career so far. I completed my Postgraduate Certificate in Clinical Education in 2017.

At medical school, I founded MUMPS (Manchester University Medics Paediatrics Society) and acted as co-president for 2 years. I arranged regular teaching events from a variety of interesting speakers and delivered teaching myself at revision sessions.

As an FY2 doctor, I was appointed FY1 teaching lead and arranged weekly afternoon teaching for the FY1 doctors in Pennine Acute NHS Trust.

As an ST3 Paediatric trainee, I was appointed Honorary Lecturer for Paediatrics at the University of Leeds. I co-ordinated paediatric teaching for University of Leeds medical students during their paediatric placements and supervised a small tutor group each rotation. I delivered interactive teaching sessions and received formal written feedback which I used toelp continually develop the teaching sessions. I was awarded a green card commendation for 'going above and beyond the expectations of medical students during clinical placements and teaching sessions.'

As a research fellow, I have delivered teaching sessions to biomedical and medical students and acted as a PBL (Problem Based Learning) facilitator. I have taught practical lab techniques to MsC students and clinical skills to medical students.

Current projects

I am collating clinical data and samples for our HNRNPU natural history study. This will help us better understand the phenotype-genotype correlation in HNRNPU-related neurodevelopmental disorder, the seizure phenotype and key growth features of the rare paediatric condition.
I am developing several AAV HNRNPU vectors to determine the optimal features for functional HNRNPU delivery. This will provide preliminary data for development of the first in-human gene therapy for HNRNPU-related neurodevelopmental disorder.