Maximising e-health initiatives to support the diagnosis and tracking of rare diseases

Additionally, specific conditions like amyloidosis, spinal muscular atrophy, and Li-Fraumeni syndrome are investigated, discussing current barriers and multidisciplinary strategies to facilitate quicker, more accurate diagnoses and better patient management. The integration of genomic data with electronic health records is explored as a transformative approach to personalising patient care, demonstrating significant improvements in diagnostic accuracy.

Lastly, the thesis assesses the accessibility of orphan drugs, analyses regulatory challenges, and advocates for continued efforts to ensure patients receive necessary treatments. Collectively, these findings advocate for a unified strategy to address the complexities of rare diseases, leveraging technological advancements and policy reform to significantly improve patient outcomes in Northern Ireland and beyond.<br><br>Appendix C listed in the table of contents as appearing on page 211 is attached as a supplementary file.<br><br><i>Thesis is embargoed until 31st December 2029</i>.<br><br><br>