King Faisal Specialist Hospital & Research Centre (KFSHRC) receives the Arab Award for Research in Healthcare at the Hamdan Medical Awards 2024. The Hamdan Bin Rashid Al Maktoum Foundation for Medical and Educational Sciences honored KFSHRC for its pioneering work in overcoming challenges in diagnosing Mendelian diseases, genetic conditions caused by mutations in one gene. The research provides valuable insights that can improve the success of global programs aimed at diagnosing previously undiagnosed diseases.
The study, titled 'Diagnostic implications of pitfalls in causal variant identification', analyzed a cohort of 4,577 families and identified key barriers to accurate genetic diagnoses. These included phenotypic complexities, novel gene-disease associations, novel inheritance patterns, and pedigree analysis-related challenges. The research demonstrated that addressing non-sequencing challenges alone could improve diagnostic yield by 71%, and successfully identified causal variants in 54.5% of previously undiagnosed cases.
This research underscores the need for a holistic diagnostic approach beyond sequencing technologies, offering valuable insights to improve global programs for undiagnosed diseases.
This recognition reaffirms KFSHRC’s position as a leader in genetic research and healthcare innovation, underscoring its commitment to advancing scientific knowledge, fostering innovation, and delivering transformative solutions to improve patient outcomes while setting benchmarks in healthcare excellence globally.
The Hamdan Medical Awards celebrate excellence in medical innovation and research across the Arab world, with categories such as Best Research in Healthcare, Innovation in Healthcare, and the Hamdan Award for Distinguished Personalities.
