A rare disease is a disease that occurs in a very small percentage of the population. Most of these diseases are genetic and persist throughout the person’s lifetime, and symptoms can appear anytime. These are also known as orphan diseases because drug companies are not interested in developing treatments for these diseases as they don’t see big profits in the area.
Rare diseases are chronic, progressive, degenerative, and often life-threatening. A patient and his or her family endure lots of pain as some rare diseases are not easily understood or do not have a cure. Research states that there are between 6,000 and 8,000 rare diseases throughout the world. Unfortunately, 75% of rare diseases affect children and 30% of rare disease patients die before the age of 5. The remaining rare diseases are usually the result of infections (bacterial or viral), allergies, environmental causes, or are degenerative and proliferative.
The problem with rare diseases is that it is difficult to correctly diagnose a patient because of the sheer number of rare diseases. There is often a delay in diagnosis as the symptoms show up very late. This lack of information and awareness usually has heavy social consequences for patients. There is no proper healthcare for these diseases. Misdiagnosis is a common consequence of this, which further worsens the situation for the patient and the family.
One way to help this situation is to share scientific knowledge about as many rare diseases as possible. Public awareness of rare diseases needs to be made a priority. New diagnostic and therapeutic procedures have to be developed for these diseases. All these initiatives require lots of funding and effort from many different groups, like government agencies and individual companies.
Last Summer, I interned at Jeeva Informatics and I was working on a project that helped address this problem. I worked on a mobile app that would output a probable diagnosis for a patient when given a set of phenotypes. The app uses the React Native framework, which makes it deployable on IOS and Android devices. The magnitude of people who are suffering from rare disease shocked me. I believe this mobile app has lots of potential because it gives patients and their families a quick, easy, cost-efficient way to get on the right track in successfully diagnosing their rare disease. The information output by the app relating to the rare diseases can be used by medical professionals to further streamline the diagnosis process as well.
Sample screen of mobile app
My experience at Jeeva Informatics was truly a great one. I got to feel what a real workplace environment was like and learned more about many skills that are essential to the workplace, like communication, time-management, research skills, and collaboration. I was also able to learn about the SDLC (Software Development Lifecycle) and related documentation that is vital to a successful project. Additionally, I would like to thank Dr. Harsha Rajasimha for being a great mentor and making me a better programmer and team-member. I would also like to thank all the Jeeva interns for their support and for making this a fantastic experience.