Riyadh:

King Faisal Specialist Hospital & Research Centre (KFSHRC) has been honored with the Arab Award for Research in Healthcare at the Hamdan Medical Awards 2024, presented by the Hamdan Bin Rashid Al Maktoum Foundation for Medical and Educational Sciences, for its groundbreaking study addressing challenges in diagnosing Mendelian diseases—genetic disorders caused by single-gene mutations, offering valuable insights that enhance the effectiveness of global undiagnosed disease programs.

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.

KFSHRC’s recognition highlights its leadership in advancing genetic research and delivering transformative healthcare solutions. The hospital has also been ranked first in the Middle East and Africa and 20th globally among the world’s top 250 Academic Medical Centres for the second consecutive year. It was named the most valuable healthcare brand in the Kingdom and the Middle East by the 2024 Brand Finance rankings and included in the World’s Best Smart Hospitals list for 2025 by Newsweek.

For more information, visit www.kfshrc.edu.sa or contact our media team at mediacoverage@kfshrc.edu.sa.