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GRASP - Genetic Research Analysing Short Patients

GRASP Team Members

Our short stature genetic research team at the Centre for Endocrinology:

Professor Helen Storr

Professor Helen Storr is the Primary Investigator leading the genetics of short stature research. She is a Consultant in paediatric Endocrinology at Barts Health Children’s Hospital and an Academic Professor at QMUL where she leads an active programme of clinical and basic science research focusing on the recognition, diagnosis, and management of growth disorders in children. Her key interests include the genetic diagnosis and molecular basis of growth disorders and growth hormone insensitivity.

Dr. Avinaash V. Maharaj

Dr. Avinaash V. Maharaj is a clinical Post-doctoral researcher in Paediatric Endocrinology. Dr. Maharaj previously worked on exploring the role of sphingolipids in adrenal steroidogenesis but current research involves elucidating novel genetic causes of short stature using a targeted next-generation sequencing approach.

Dr. Miho Ishida

Dr. Miho Ishida is a Postdoctoral Research Fellow in Bioinformatics specialising in genomic analysis of fetal and childhood growth disorders. She completed her PhD at the UCL Great Ormond Street Institute of Child Health, investigating the role of imprinted genes in fetal growth. Her expertise includes whole-genome sequencing, variant interpretation, DNA methylation, and transcriptomic analysis. Her current research focuses on identifying genetic causes in unsolved short stature cases within the 100,000 Genomes Project rare disease cohort, integrating polygenic height scores to enhance diagnostic pipelines, and discovering novel genes associated with childhood growth disorders.

Dr. Afiya Andrews

Dr. Afiya Andrews is a NIHR Academic Clinical Lecturer in Paediatric Endocrinology and a Paediatric Endocrinology and Diabetes subspecialty senior resident doctor. She completed her PhD at the Centre for Endocrinology, QMUL, where she investigated the molecular mechanisms of postnatal growth restriction using novel patient genetic variants. Her current research focuses on developing novel growth disease models to identify and test therapeutic targets for growth disorders.

Dr. Liliane Eleid

Dr. Liliane Eleid is a Postdoctoral Research Associate at the Centre for Endocrinology. She completed her PhD at Imperial College London, where she investigated the functional impact of a GLP-1 receptor single nucleotide polymorphism on insulin secretion, glucose tolerance, and type 2 diabetes risk, contributing to understanding its protective effects against type 2 diabetes and implications for incretin-based therapies. Her current research focuses on identifying and characterizing novel genes involved in chondrogenesis that contribute to short stature disorders, aiming to uncover molecular mechanisms underlying skeletal growth abnormalities.

Dr. Uttara Kurup

Dr. Uttara Kurup is a Clinical Research Fellow in Paediatric Endocrinology. She is a paediatric trainee undertaking a PhD at the Centre for Endocrinology under the supervision of Professor Helen Storr, Dr Carles Gaston-Massuet and Dr Avinaash V. Maharaj. Her research focuses on phenotype–genotype correlations in Silver-Russell syndrome (SRS) and the characterisation of novel genetic mutations in affected SRS patients.

Dr. David Lim

Dr. David Lim is a Clinical Research Fellow in Paediatric Endocrinology. He has completed his subspecialist clinical training in Paediatric Endocrinology and Diabetes and is undertaking a PhD at the Centre for Endocrinology under the supervision of Professor Helen Storr (QMUL) and Professor Justin Davies (University of Southampton). His research aims to improve the diagnosis, management and outcomes of Noonan syndrome, a multi-systemic short stature genetic disorder.

 

 

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