Dr Fasham is an Academic Consultant Clinical Geneticist specialising in rare genetic conditions and their impact on patients and families. After completing his medical degree at the University of Bristol (MBChB 2009), he pursued specialty training in paediatrics and then genetics, qualifying as a consultant in 2024. Alongside clinical training he undertook training in academic genetics at the University of Exeter distinguished by a Wellcome GW4-CAT fellowship and culminating in a PhD in 2022. During his doctoral research, he made significant contributions to the field by identifying several novel genetic neurodevelopmental conditions and refuting erroneous associations, preventing misdiagnosis. In his clinical practice, Dr Fasham provides wholistic care for adults and children with rare genetic disorders, working closely with affected families. His research is focused on advancing understanding of these conditions through sophisticated genomic analyses, utilizing extensive datasets from national and international sources such as Genomics England and the UK Biobank. Collaborating with internationally prominent researchers like Professor Caroline Wright and Professor Emma Baple, he leverages the above resources and platforms such as GeneMatcher to expand scientific knowledge of rare disorders. Additionally, he represents UK clinical academics through roles with Decipher (www.deciphergenomics.org), based at the Sanger Institute, and the European Society of Human Genetics (www.eshg.org/smc). Currently, Dr Fasham is involved with projects informing the Generation Study, a pioneering new-born genome sequencing pilot, which aims to explore early genetic screening and intervention strategies.