King Faisal Specialist Hospital & Research Centre (KFSHRC) has been honoured with the Arab Award for Research in Healthcare at the Hamdan Medical Awards 2024. 

 

The award, presented by the Hamdan Bin Rashid Al Maktoum Foundation for Medical and Educational Sciences, recognised KFSHRC 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 programmes.

 

The study, titled "Diagnostic implications of pitfalls in causal variant identification", analysed 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.

 

Holistic diagnostic approach

This research underscores the need for a holistic diagnostic approach beyond sequencing technologies, offering valuable insights to improve global programmes 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 global healthcare benchmarks.

 

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. For the second consecutive year, the hospital has been ranked first in the Middle East and Africa and 20th globally among the world’s top 250 Academic Medical Centres. 

--TradeArabia News Service