Developing cost-effective genomic diagnostic approaches for metabolic conditions affecting the Palestinian population: A translational medicine approach

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 be involved in the development of cost-effective genomic diagnostic approaches to identify founder genetic variants that underlie metabolic disorders occurring at increased frequency in the Palestinian population. The purpose of developing these new approaches is to provide an affordable way of rapidly confirming new metabolic diagnoses and of offering pre-conception screening. This research will bridge the gap between genomic research and practical application in clinical and public health settings, aligning with translational medicine principles. This project will be undertaken in collaboration primarily with the Metabolic Unit at the Arab American University, as well as healthcare services in the Jenin Gouvernate, local municipalities and community leaders. The successful student applying for this project will join our internationally renowned translational genomic, clinical and bioinformatic research groups at the University of Exeter (Home > Rare Disease Genomics). The student will work to collate and curate a database of previously identified pathogenic gene variants previously reported in association with metabolic conditions affecting Palestinian families. The student will learn basic molecular genetic techniques, including primer design, PCR and Sanger sequencing as well as digital droplet PCR and advanced next generation sequencing approaches. All consumable costs involved in this project will be supplied by collaborating research groups. In addition to publishing the results of this genetic screening program, the findings will be shared with diagnostic laboratories to support the development of accessible and cost-effective community screening initiatives. The outcomes of this program will also be evaluated to assess their impact on improving diagnostic accuracy, affordability, and accessibility. Through our established collaborations with regional and national diagnostic laboratories, this project will contribute to building a sustainable genomic diagnostic program for metabolic founder variants within the Palestinian population, ensuring long-term benefits for both clinical practice and public health.