Keywords
ultra-rare diseases
newborn screening
ADA deficiency
Alport syndrome
founder mutation
novel gene
artificial intelligence diagnostics
ultrarare case
Georgia
How to Cite
Abstract
Rare diseases (RDs) affect fewer than one in 2,000 individuals but collectively impact over 300 million people worldwide. Despite their diversity, these conditions share common challenges, including delayed diagnosis, limited treatment options, and psychosocial burden. Ultra-rare diseases - those affecting fewer than one in 50,000 individuals - pose additional difficulties due to their extreme rarity and limited clinical expertise. Current estimates suggest that 3.5–5.9% of the global population lives with RDs, which positions these conditions as a major public health issue rather than isolated clinical rarities.
Newborn screening programs in several countries have shown that early detection of conditions such as severe combined immunodeficiency (SCID) can enable timely, life-saving interventions. Adenosine deaminase (ADA) deficiency, a genetic cause of SCID, illustrates how survival depends considerably on prompt diagnosis. While challenges remain, including gaps in screening, long delays in diagnosis, or even undiagnosed conditions, limited access to care and lack of effective treatments.
Georgia has contributed to this global effort through studies on Alport syndrome, artificial intelligence in rare bone disease diagnostics, and case reports of ultra-rare disorders. these achievements demonstrate the potential of local research to strengthen both national and international rare disease initiatives.
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