Stat News recently published comments by Bruce Bloom, collaboration officer at Healx, Cambridge, UK heralding the major advances in the treatment and the study of rare disease during 2022. Healx is known for its AI drug development for new rare disease therapies.
Over the past decade, the number of rare diseases reported remained at 7,000 to 8,000. However, due to continuous upticks, the number of rare diseases reported in June of 2022 was 10,867, a 33% increase.
It is critical to distinguish among diseases in order for optimum treatments to be developed.
The aforementioned increase emerged from a better understanding of an individual’s distinctive biology. It is a potential key to evaluating rare diseases and developing optimum therapies.
Diagnosing Symptoms vs Genetics
For years a disease was classified according to symptoms rather than given a genetic basis. However, the increased ability to recognize certain genes associated with a disease moves people out of standard classifications and into very specific disease categories.
Looking at the number of people with rare diseases in the world, many people have been undiagnosed for a number of years before receiving the correct diagnosis. Others may never receive an answer.
People With the Same Symptoms May Not Respond to the Same Therapy
As doctors’ and scientists’ ability to recognize rare diseases improves, their fundamental approach to therapy will change.
It is most beneficial to treat every person’s disorder as being unique. People with the same disease characteristics may not have the same biologic dysfunctions or genetic defects.
One example would be Angelman syndrome. Similar underlying defects that cause certain symptoms do not necessarily mean that everyone with Angelman syndrome will have the same response to the same therapies.
Consider that two people may harbor the same genetic defect that is the cause of their disease. Other genetic differences, however, may cause them to metabolize medicine differently. Their proteins may not interact with other proteins in a similar manner.
AI and computational biology are being utilized to individualize treatments and treat each disease as not only rare but specific to each person.
Computational biology is defined as a broad category that involves applying computer science and computers to understanding the processes and structures of life.
Searching for Better Rare Disease Outcomes
Drug discovery carries a 90% failure rate. Developers, therefore, are focusing on drugs designed for a large number of people, hoping to compensate for the financial burden of failures.
In fact, only 5% of all rare diseases have a treatment that has been approved for a specific disease.
There is Reason to Hope
AI and machine learning lead the way to identify new treatments. New innovations bring hope to millions who live with a rare disease. Researchers are developing therapies much faster that are more cost-effective.
It is especially encouraging that AI is now able to utilize large data sets that are often missed by experienced scientists working manually.
The future looks promising.
