The last day of February every year is Rare Disease Day, a day designed to raise awareness of rare diseases and to help people understand the impact of rare diseases on the lives of patients. According to RareDiseaseDay.org, one in twenty people will live with a rare disease at some point in their life – and even if there is an appropriate treatment, diagnosis can be extremely challenging.
Patients with rare diseases often face extremely grueling challenges. Bouncing from specialist to specialist, receiving misdiagnosis after misdiagnosis, and sometimes even facing scrutiny or suspicion of drug-seeking behavior; when less than one in 200,000 people are afflicted with a condition, as is the definition of rare disease, receiving the correct diagnosis can be extremely difficult, not to mention frustrating, painful and potentially fatal.
Pharmaceutical and genetic research is making massive strides; the advent of personalized medicine is helping, as rare disease focused biopharma companies worldwide are able to craft treatments for conditions that may not have even had official names as recently as five years ago, and may still not even have an official ICD-10 code. However, there is much further to go.
Swoop, with intelligence by IPM.ai, is extremely proud to be involved in the fight to help rare disease patients receive the correct diagnosis and appropriate treatment. By leveraging advanced AI and machine learning techniques, we hope to help foster an environment where rare disease patients can receive a diagnosis as quickly and accurately as possible.
As the medical and biopharma industries continue to embrace AI tools, physicians throughout the world will have more information and more intelligence at their disposal. Machines can break down infinitely more and more complex data sets vs. humans; it is this technological advancement that should give hope for a future where focus in the rare disease space is primarily on treatment, and recognition and diagnosis become easier, more convenient and more accurate.
Today is Rare Disease Day, 2019. If you or a loved one face the challenges of living with a rare disease, know that you are not forgotten – pharmacological and diagnostic science are advancing daily towards a world where you can be properly treated.