Sidra Medicine, a member of Qatar Foundation, has highlighted the real-world impact of precision medicine on a six-year-old patient with a rare genetic condition. Marking Rare Disease Day observed today (Feb 28), the case shows how genomic research can directly inform clinical care and support early diagnosis and guided targeted treatment.
“Precision medicine at Sidra Medicine is not confined to the laboratory — it is embedded into everyday clinical care, particularly for children with rare genetic conditions,” said Prof Khalid Fakhro, chief research officer at Sidra Medicine. “This case exemplifies how research and care work together to deliver earlier diagnoses, better outcomes, and truly personalised medicine for children and their families.”
A six-year-old, patient S (name withheld), was presented with velopharyngeal insufficiency, significant speech delay, and distinct craniofacial features. While these symptoms were initially managed through specialist clinical services, the combination and complexity of findings raised concerns that they may be part of an underlying genetic condition requiring further investigation.
“For years, we knew something was not right, but we did not have clear answers,” said the young girl’s family. “The uncertainty was difficult, and we were worried about her future. Receiving a definitive diagnosis helped us understand what she needed and gave us reassurance that she was finally receiving the right care.”
The patient was enrolled in Sidra Medicine’s Mendelian research programme, where she underwent Whole Genome Sequencing as part of a research-led diagnostic pathway designed to identify rare and complex genetic disorders.
Genomic analysis confirmed a diagnosis of 22q11.2 deletion syndrome, also known as DiGeorge syndrome — a rare genetic condition that can affect multiple body systems. It is often challenging to diagnose due to its highly variable clinical presentation. The definitive diagnosis brought an end to prolonged diagnostic uncertainty and provided clinicians with a clear framework to anticipate associated health risks, enabling proactive clinical planning and long-term preventive care.
With a confirmed genetic diagnosis, Sidra Medicine’s teams co-ordinated a comprehensive, multidisciplinary care pathway tailored to the known health risks associated with 22q11.2 deletion syndrome. “The genetic diagnosis fundamentally changed how we approached this case,” said Prof Ibrahim Janahi, chief medical officer at Sidra Medicine. “It gave us clarity about the underlying condition and the risks associated with it. With that insight, our medical teams were able to intervene early and plan treatment with precision. Instead of waiting for complications to develop, we acted proactively.”
To prevent further complications from emerging, the patient was proactively referred for targeted screening and consultations across multiple sites at Sidra Medicine. This included cardiology, immunology, ophthalmology, and craniofacial services – enabling early identification and management of potential concerns.
The patient underwent specialised craniofacial surgery to treat velopharyngeal insufficiency, a condition in which the soft palate does not close properly during speech. The procedure significantly improved her speech clarity and communication, addressing one of the primary challenges that initially led her family to seek medical care. She was also referred for non-cleft-related velopharyngeal insufficiency, which affected her speech and caused hypernasal resonance.
“Although there was no cleft, the velopharyngeal insufficiency significantly affected her speech,” said Dr Mitchell Stotland, vice-chair of Surgery at Sidra Medicine. “In May 2025, we performed a sphincter pharyngoplasty.
The improvement in her speech clarity was immediate and transformative, as the intervention significantly enhanced her communication and confidence.”
Today, the young girl continues to receive co-ordinated, preventive follow-up care tailored to her genetic condition. Early diagnosis and timely intervention, combined with ongoing multidisciplinary support, have significantly improved her day-to-day quality of life and reduced the likelihood of future complications.