Over the past decade, 138 patients at UZ Gent have been diagnosed with a rare condition through the specialised PrOZA programme.
Since its launch in 2015, the PrOZA team has assessed 768 individuals with undiagnosed rare diseases, out of a total of 1,453 people referred by their treating physicians.
More than 60% of patients in the programme are women, 94% are adults, and 42% report neurological symptoms. Genetic testing using exome sequencing was conducted for half of these patients, while others underwent additional blood and imaging tests.
Medical geneticist Bruce Poppe highlighted the significance of these efforts, noting that patients with rare diseases face an average wait of 19 years for an accurate diagnosis. He called each breakthrough a step toward recognition and improved care.
The PrOZA team has also identified three new rare conditions, two of which have been published in "Nature Genetics." Meanwhile, Europe’s ERDERA network is reviewing 100,000 unresolved cases, offering fresh hope for undiagnosed patients seeking answers.
