King's Health Partners Rare Disease Grand Round
Join us for the inaugural Rare Disease Grand Round hosted by the King's Health Partners Rare Disease Network
The King's Health Partners Rare Disease Network brings together research and clinical groups across the region, facilitating networking opportunities and creating a collaborative environment for cross organisational rare disease research. By enhancing collaboration, scale, and impact of research, the network aims to attract future investment in translational rare diseases research.
The first Grand Round will take place on 29 February 2024 to celebrate Rare Disease Day. This is an annual event dedicated to raising awareness and advocating for equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Don't miss this opportunity to join members of the King's Health Partners research and clinical community, and hear from experts involved in rare diseases research. REGISTER HERE.
Chair: Dr Cristina Dias, Chair of the King's Health Partners Rare Disease Network and Consultant in Clinical Genetics at Guy's and St Thomas' NHS Foundation Trust.
Confirmed topics and speakers:
'Linking genes to function in congenital anomalies'
Prof Karen Liu is currently Professor of Genetics and Development in the Centre for Craniofacial and Regenerative Biology. Her work focuses on the normal and pathological development of neural crest tissues. She currently leads the Congenital Anomalies Cluster of the National Mouse Genetics Network.
'Sickle Cell Anemia and Diamond-Blackfan Anemia'
Prof John Strouboulis joined King’s College in 2018 as Professor and Chair of Molecular Erythropoiesis. Previously, he was a Principal Investigator leading research in globin gene regulation and transcription factor function in erythropoiesis in research institutes in his native Greece and in the Netherlands. John did his PhD in molecular biology at the MRC-National Institute for Medical Research in London PhD on the developmental regulation of the human β-globin locus and a postdoctoral fellowship at the National Institutes of Health on epigenetic mechanisms in early embryonic development. Currently, his main research interests are at the intersection of erythropoiesis and red cell disorders, mainly, sickle cell anemia and Diamond-Blackfan anemia.
'Identifying pathogenic variants involved in growth defects using Genomics England data'
Prof Rebecca Oakey is based in the Department of Medical and Molecular Genetics and her research interests focus on gene regulation in normal development and in human disease. Her research program utilizes a combination of 'omics data and molecular genetics to understand the contribution of epigenetic mechanisms to gene expression in normal developmental contexts and in rare diseases and cancer.
‘The trials and tribulations of developing new treatments for rare diseases’
Dr Melita Irving trained in paediatrics before joining the clinical genetics department at Guy's and St Thomas' NHS Foundation Trust. She undertook a fellowship in skeletal dysplasia at the Royal Children's Hospital, Melbourne and has since established multidisciplinary paediatric clinics in skeletal dysplasia and achondroplasia at the Evelina London Children's Hospital. She is chief investigator for a number of clinical trials in achondroplasia and a proponent of embedding clinical research synergistically within clinical service.