Our short stature genetic research team at the Centre for Endocrinology:
Professor Helen Storr, Professor of Paediatric Endocrinology and Honorary Consultant in Paediatric Endocrinology.
Professor Storr is the Primary Investigator and leads the genetics of short stature research.
Professor Lou Metherell, Professor of Endocrine Genetics.
Professor Metherell has extensive expertise in the genetic diagnosis of endocrine disorders.
Dr Emily Cottrell is a Clinical Research Fellow in Paediatric Endocrinology. Dr Cottrell is a paediatric trainee undertaking a PhD at the Centre for Endocrinology under the supervision of Professor Storr and Professor Metherell. Her research involves targeted next-generation sequencing (NGS) using a custom-made gene panel and functional profiling of variants for the characterisation of children with severe short stature phenotypes.
Dr Sumana Chatterjee is a Clinical Research Fellow in Paediatric Endocrinology. Dr Chatterjee is a paediatric trainee undertaking an MD at the Centre for Endocrinology under the supervision of Professors Helen Storr, Martin Savage and Lou Metherell. Her research is focused on phenotype-genotype correlations of Growth Hormone Insensitivity / IGF-1 Resistance patients and also functional studies of novel genetic mutations in these patients.
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 Afiya Andrews is a Clinical Research Fellow in Paediatric Endocrinology. Dr Andrews is a paediatric trainee undertaking an MD at the Centre for Endocrinology under the supervision of Professor Helen Storr and Dr Peter McCormick. Her project aims to investigate novel causes of pre-and post-natal growth restriction in children.
Dr Thilipan Thaventhiran is a Research Nurse undertaking a research project aimed at investigating growth monitoring for growth disorders in children under the guidance of Professor Storr.