Reducing rare disease genomic healthcare inequalities in Palestine. A pathway od health care and scientific discovery

This project will form part of our established translational genomic research programme “Stories of Hope, Stories from Palestine”. The successful student applying for this project will investigate the spectrum and causes of rare genetic developmental disorders in Palestinian communities, to help us understand them, discover new genetic conditions, and learn about the processes that are important for normal human development. This research will also benefit healthcare provision in medically underserved Palestinian communities by improving diagnosis, clinical management, and treatment for Palestinian families and families globally with these conditions. We have strong, long-term collaborative partnerships with clinicians serving the Palestinian population and genetic research groups at the Arab American University and worldwide. The student will join our internationally renowned translational genomic, clinical and bioinformatic research groups at the University of Exeter (Home > Rare Disease Genomics). The student will also work with our international collaborative network and within large research cohorts to identify other families worldwide with the same genetic conditions to help us better understand these diseases. Alongside genetic studies of over 5-10 recruited families, the student will also focus on clinical, genetic and molecular studies of one new developmental disorder recently identified in Palestinian families as part of the Stories of Hope programme. This will confirm this recently identified likely new disease gene as causing a novel genetic disorder. We’ll share these findings with Palestinian healthcare providers and globally to enhance clinical management. The student will gain experience of cutting-edge in-house genomic technologies (whole genome and long-read sequencing). They will learn how to analyse clinical and genomic data and interpret the genetic variants identified. They will also gain basic skills in bioinformatics, protein modelling approaches, and fundamental molecular-functional analyses. Family-based and cohort level analyses will be undertaken using extensive in-house databases of Palestinian genomic variation, UK Biobank data and the Genomics England research environment. All consumable and data storage costs involved in this project will be supplied by collaborating research groups. In the longer term, we hope that cell and molecular studies of newly identified genetic conditions, discovered in collaboration with local and global experts, will provide important new insights into disease mechanisms and explore potential treatments.