These Organizations Are Joining Forces To Use AI To Develop Improved Rare Disease Diagnostics

According to a story from PressReleasePoint, a new partnership has developed to generate artificial intelligence technology that will help diagnose people with a variety of rare diseases. The partnership consists of the Alexion Pharmaceuticals, The Manton Center for Orphan Disease Research, and the Innovation and Digital Health Accelerator, the last two of which are based at Boston Children’s Hospital.

Alexion Pharmaceuticals is known for its focus on developing therapies for rare diseases. It is considered an industry leader in the creation of complement inhibitors, which have been used to a treat a variety of rare conditions such as anti-acetylcholine receptor antibody-positive generalized myasthenia gravisparoxysmal nocturnal hemoglobinuria, and atypical hemolytic uremic syndrome. The company has also developed enzyme replacement therapies for lysosomal acid lipase deficiency and hypophosphatasia.

One of the major problems in the field of rare diseases is the challenges of finding an accurate diagnosis. While there are some rare diseases that have distinctive, diagnostic features that allow them to be identified easily, there are many that do not. It is easy for doctors to mistake the symptoms of a rare condition with those of a much more common disease. To make matters worse, many doctors have no experience diagnosing rare diseases and may not have even heard of the conditions that their patients could have. Delays in getting an accurate diagnosis can also be very costly for rare disease patients. A delayed diagnosis usually means a delay in useful treatment, which gives time for disease symptoms to progress and worsen. This ultimately leads to worse outcomes for patients, and in some instances can mean the difference between death and survival.

The partnership combines the unique abilities of each organization in order to develop more effective diagnostic procedures. The Manton Center, for example, specializes in treating and diagnosing rare conditions; meanwhile Alexion has greater experience with data science and genomics. As part of the project, Alexion is utilizing its innovative 20 Rare Disease Questions (20RDQ) module, which combines clinical feature databases and an in-depth compilation of rare disease related definitions to generate a series of questions that are based on a patient’s medical record. Hopefully, this partnership will help develop new methods that can improve rare disease diagnostics worldwide.


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