Bone Abstracts

Biographical Details

Dr Melita Irving

Dr Melita Irving is a consultant in clinical genetics and joint head of service at Guy’s and St Thomas’ Hospital NHS Foundation Trust with the Evelina London Children’s Hospital. She is a trained general geneticist and sub-specialises in skeletal dysplasia, particularly achondroplasia and other genetic dwarfing conditions. She has developed clinical whole exome sequencing for skeletal dysplasia conditions. Melita completed her research higher degree in clinical and molecular studies in skeletal dysplasia and is chief investigator for a number of clinical trials and projects in achondroplasia. In 2011, she received the Maroteaux Award for advancing knowledge of skeletal dysplasia conditions. She is a keen teacher and trainer in skeletal dysplasia and clinical genetics, and is part of the team recruiting families with rare diseases to the 100 000 Genomes Project through the Genomic Medicine Centre South London, which she helped to establish. In addition, she is co-lead for the Genomics England Clinical Interpretation Partnership (GECIP) for skeletal dysplasia, recruiting patients and undertaking research across a number of conditions, including undiagnosed skeletal dysplasia.