Publications by authors named "Hamda Abulhoul"
Article Synopsis
- Significant healthcare challenges are posed by rare diseases in underserved areas like the Middle East, which lack genomic diagnostic services.
- A clinical genomics facility was established in the UAE to diagnose and manage rare disease patients, utilizing methods like exome sequencing and chromosomal microarrays, demonstrating a cumulative diagnostic yield of 32.5%.
- The majority of diagnosed Mendelian disorders were identified in young patients, with many receiving delayed diagnoses due to limited access to genetic testing, highlighting the importance of local genomic services for timely management.
We describe a case series of five infants (age range: 1-90 days; 4 females and 1 male) who presented to Al Jalila Children's intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was performed on all five patients and their parents within the hospital's genomics facility.
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