Jo Wright

My family joined the 100,000 Genomes Project at the beginning of 2017 in hopes of finding a diagnosis for my daughter who was three years old at the time and experiencing developmental delay, along with other symptoms. When the results were returned in 2020, we were informed that a Variant of Uncertain Significance (VUS) had been found. Since then the genetics team has continued working to determine whether the VUS is responsible for my daughter’s difficulties. We remain hopeful that ongoing advances in Genomic Medicine will ultimately provide us with a diagnosis and deeper insights into her genetic condition.

Over the past few years, I have been involved in several research projects focusing on rare conditions and Genomic Medicine, either as a participant or as part of an advisory panel. I am also a member of the Patient and Public Involvement Group for Central and South Genomic Medicine Service. I am particularly passionate about improving the communication of information about genomics to parents and supporting them in sharing this knowledge with professionals involved in their child’s care, especially those in settings outside of the NHS such as education and social care.