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Why aren’t there more rare disease, open source success stories?

Written by
Patrick Randolph
Published on

Rare diseases affect 300 million people worldwide yet a thorough searching for success stories taking them on has returned few results. In an era of computational revolution and open source success, why aren’t there more? We will talk about why that is and what we at Health Universe will do to change that.

This blog was supposed to be one in a series of posts highlighting famous success stories where open source developers came together to help rare disease sufferers. But, I found many fewer stories than I would have liked.


Why? First, let’s start with some important basics.

What are Rare and Orphan Diseases

Rare diseases are conditions that affect a small percentage (usually under 5 in 10,000 people) of the population. These disorders often come with unique challenges, including limited research funding, lack of awareness, and difficulties in diagnosis and treatment due to their rarity. Despite their individual rarity, the collective impact is significant, affecting millions of lives worldwide. Orphan diseases are similar, but also don’t easily match with specific specialties, so who is in charge of caring for those patients gets lost.

What is Open Source?

Open source refers to a collaborative approach to software development, where the source code is made freely available, allowing anyone to view, use, modify, and distribute it. This philosophy has driven innovation across various industries, from IT to healthcare. For example, Android is the operating system for 1.6 billion devices and is open source. In the context of rare diseases, open source can foster collaboration among researchers, clinicians, and developers, providing a platform for collective problem-solving and resource sharing.



One Success Story: Dan Caron and Loop

There have been successes, but very few. One of them is Loop, the initiative that caused our founder to start Health Universe. Loop is the first FDA approved open source algorithm for insulin pumps. It makes sure that Type 1 Diabetics get the right dosage at the right time. The best part? It is free. It was built by a community of obsessives and T1D havers who wanted something better. Against many odds, they succeeded and the results are incredible. You can read more about it here.



Why Aren't There More Success Stories:

Several factors contribute to the scarcity of success stories at the intersection of rare diseases and open source:

Limited Resources

Rare diseases often lack the financial backing and research resources compared to more prevalent conditions, making it challenging to initiate and sustain open-source projects dedicated to these disorders. The Chan Zuckerberg Initiative is doing a good job funding rare disease groups at a pace of 50 per cohort to fight this. are helping groups fight this.

Fragmented Research

The rarity of these diseases results in fragmented research efforts across the globe. Coordinating these initiatives becomes crucial, and the lack of a centralized platform or standardization hampers progress.

Lack of Awareness

Many rare diseases suffer from a lack of awareness, hindering the recruitment of contributors and collaborators for open-source projects. Without a critical mass of participants, progress can be slow.  NORD has helped rare disease groups band together to advocate as a whole.

Data Privacy Concerns

Healthcare data, especially related to rare diseases, often involves sensitive information. Balancing the need for data sharing in open-source projects with privacy concerns poses a significant challenge. In addition, finding enough data for analysis is difficult, since, by definition, rare diseases are rare.

It’s still early!

Generative AI is only a year old! Doctors only went electronic in the last decade! This is still early days. We expect to have a much longer blog post in the coming years highlighting all the success stories.

How Health Universe will Help Rare and Orphan Disease Groups

Health Universe isn’t waiting around for success stories to just appear, we want to make them happen. Here's how we plan to address these issues:

Creating a Centralized Community for Healthcare AI and ML Models

Disappointed in the fragmentation we’ve seen, Health Universe has built a centralized hub for rare disease research and open-source collaboration. This platform brings together researchers, developers, and advocacy groups, fostering a collaborative environment. We’ve lowered the bar to entry with a solution that allows deployment of an AI model in under 1 minute so that even non-coders can use it.

Securing Funding

We understand the financial constraints associated with rare diseases. Health Universe will actively seek funding opportunities to support open-source projects dedicated to these conditions. 

Raising Awareness

Our team will work diligently to raise awareness about rare diseases and the potential impact of open-source initiatives in addressing these challenges. Education and outreach efforts will be a key focus. In addition, we will work with advocacy groups to put on code-a-thons aka missions to bring together our network of developers and researchers towards a solution.

Ensuring Data Security

Health Universe is committed to implementing robust data security measures. We are seasoned healthcare entrepreneurs and executives who didn’t just stumble into this. We know the importance of data security and privacy. Without it, there is nothing else. By prioritizing privacy and compliance with ethical standards, we aim to address concerns related to data sharing in the context of rare diseases.


In a world where collaboration and innovation are driving forces, it's time to bridge the gap between rare diseases and open source. Health Universe envisions a future where success stories emerge from this collaboration, providing hope and solutions for those affected by rare conditions. By fostering a community-driven approach and leveraging the power of open source, we believe that together, we can make a meaningful impact on the lives of millions. Join us on this journey towards a future filled with more success stories in the realm of rare diseases and open source.

Goal: we will have 5 success stories in the next year from Health Universe alone! Reach out if you want to work with us.

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