Rare Diseases Are Not So Rare! There are about 7,000 different rare diseases that affect an estimated 30 million people in the United States. In Europe, a disease is considered rare when it affects less than 1 in 2000 people. A total of about 350 million worldwide represent a significant medical and economic burden and unfortunately, half of that is accounted for children.
Apart from the big numbers in statistics, rare diseases are challenged with often being misdiagnosed or undiagnosed for an average of 4.8 years and in the meantime being consulted by 7.3 different specialiststo receive a final diagnosis. And still, the majority of patients with rare diseases remain undiagnosed regardless of the nature of the therapeutic area.
The month of April has a lot in common with rare diseases. April is recognized as Fabry Disease Awareness Month plus April 15 has been chosen as the Annual International Pompe Day. Sqilline has also joined the rare disease awareness.
Digital health can provide high added value for the delayed/late diagnosis. With the advancement in medicine and innovative technologies, the possibilities for early diagnosis and treatment of people affected by rare diseases are greatly enhanced. This will help them lead a fulfilling life, start a family and have a successful professional career in society.
Our technology, Danny Analytics can accelerate the screening time with Big Data to provide a fast, accurate and automated pre-selection of high-risk patients for the Pompe, Fabry plus Gaucher rare diseases. Sqilline’s innovative digital tool is designed to stimulate and empower physicians to search and be more effective by using digital technology with direct access to the Danny Analytics platform.
Via AI, Danny Analytics can support physicians and scientists in shortening the diagnosis journey delay. Embedded Machine-learning algorithms into the platform allow the physicians to quickly process the enormous volume of unstructured data from epicrisis and identify patients based on specific symptoms criteria.
To some extent, this improves the quality of life of those affected. Other benefits for earlier rare disease screening through digital technologies include:
- making the most of RWE and advances in data analytics
- identify high-risk patients for screening
- an accurate and timely diagnosis – more options for a better future
- positive impact for people leaving with rare diseases
Spreading awareness is necessary and critical to increasing the recognition, diagnosis, understanding, and management of rare diseases. Still, they all remain severely underdiagnosed, misdiagnosed, and often misunderstood conditions.
To know more about Danny Analytics and how it can accelerate the screening time for high-risk rare disease patients, please contact us here.