Rare diseases present one of the biggest challenges in modern healthcare. Affecting fewer than 5 in 10,000 people, these conditions often go undiagnosed for years, leading to delayed treatment and unnecessary suffering. The European Union has taken steps to incentivize the development of orphan medicines, but early detection remains a major hurdle. This is where AI-driven solutions, like Sqilline’s Danny Platform, step in to revolutionize rare disease diagnosis and care.

The Challenge of Rare Diseases

With over 6,000 known rare diseases affecting approximately 36 million people in the EU, the need for early detection is more pressing than ever. Currently, many rare diseases are identified too late for optimal treatment, limiting patient outcomes. The EU’s orphan designation incentives encourage pharmaceutical companies to develop treatments, but the process of diagnosing these diseases remains inefficient and resource-intensive.

Sqilline’s Role in Early Diagnosis

Sqilline Health has embraced this challenge with our Danny Decision Support for Rare Diseases. By leveraging AI algorithms, the platform extracts, and analyses electronic health records (EHRs) to identify patients who may be at risk. Unlike traditional methods, which rely heavily on symptomatic diagnoses and genetic testing case by case, Danny accelerates the detection process by automatically flagging all potential cases for further screening.

How Danny Platform Works

Danny Decision Support for Rare Diseases operates through a data-driven approach by executing the role of a “Simple search” software:

• Automated screening –  The platform continuously scans EHRs using predefined inclusion and exclusion criteria.
• Identification of high-risk patients –  Patients who match rare disease indicators are flagged for review.
• Physician alerts – Healthcare professionals receive notifications about undiagnosed but at-risk patients.
• Facilitating genetic testing – Physicians can arrange confirmatory genetic tests, expediting the diagnostic journey.
• Cohort monitoring – Danny continuously updates patient cohorts, ensuring that newly identified high-risk patients are immediately addressed.

The Impact on Rare Disease Treatment

Early diagnosis through AI-driven solutions like Danny Platform leads to significant improvements in patient outcomes. Our success in rare disease detection includes experience with several conditions:

• Pompe Disease
• Gaucher Disease
• Fabry Disease
• Transthyretin Amyloid Polyneuropathy (TTR)
• Lysosomal Acid Lipase Deficiency (LAL-D)
• Hypophosphatasia (HPP)
• Paroxysmal Nocturnal Haemoglobinuria (PNH)

By identifying potential cases earlier, physicians can initiate timely treatments, improve prognosis, and enhance the quality of life for individuals living with rare diseases. Furthermore, by streamlining the detection process, healthcare systems can reduce the burden of late-stage diagnosis, leading to more efficient resource allocation.

Conclusion

Rare diseases will always pose a challenge, but technological advancements are creating new opportunities for early detection and intervention. While regulatory frameworks like the EU’s orphan designation facilitate drug development, solutions like Sqilline’s Danny Platform ensure that patients receive diagnoses sooner rather than later. By integrating AI into clinical workflows, Sqilline is playing a key role in transforming rare disease care, making a meaningful difference for millions of people worldwide.

For more information about how Danny Decision Support for Rare Diseases is shaping the future of early diagnosis, visit Sqilline’s website.