In recent years, there has been a surge in the development of healthtech innovations focused on addressing the needs of individuals with rare diseases. Startups utilize and leverage the latest technologies and test different approaches to provide patients with personalized solutions that can help them manage their conditions, improve their quality of life, and ultimately, find better treatment options.
In this article, we try to explore the technologies that tackle those diseases, strategies used by modern-era startups to enter the market of software products that help those people with rare diseases, and also the angles from which the issue is tackled.
The challenge of rare disease diagnosis
‘Rare disease’ is always sort of low on the public health agenda, and it is astonishing that this issue is often overlooked as almost 400 million people worldwide suffer from rare diseases around the world. The stats show that their combined impact affects more people than AIDS and cancer combined.
Source: project8p.org
Although each rare disease by itself doesn’t have a significant impact on public healthcare and economics, when considered as a group, rare diseases are known to be widespread and affect a large number of people.
Due to a lack of expertise and knowledge in the field of rare diseases, patients often have to wait for several years (if they even receive a diagnosis at all) and undergo unnecessary, invasive procedures, resulting in misdiagnosis.
EURORDIS indicates that a quarter of patients had to wait between 5 and 30 years from early symptoms to confirmatory diagnosis of their disease. Also, 40% of patients first received an erroneous diagnosis, others received none”.
This is a common occurrence and results in significant costs that cannot be ignored. At a larger health system level, rare diseases are also economically expensive. Undiagnosed rare diseases have cost the US healthcare system over $4.7 billion in the past decade, with 10% of the healthcare budget in 2016 spent on rare diseases.
Per patient, annual treatment costs for a patient with a rare disease vary between €27,811 and €1,647,627 in Germany. Annual per-capita spending for these diseases ranges from €1.32 in Latvia to €16 in France.
Now that it’s established tackling rare diseases has the potential from many angles, let’s see who are the main players among startups in the game.
Examples of successful rare diseases startups
RDMD
RDMD is a San Francisco-based healthtech startup that focuses on rare disease research and patient insights.
They have an interesting story of origin as the medical app got its start as a Snapchat competitor. Onno Faber, a video chat startup TapTalk’s founder, was diagnosed with a rare disease called neurofibromatosis type 2, which has emerged from stealth mode.
That brought him to becoming RDMD co-founder. The startup collects and analyzes medical records, and then sells de-identified data to pharmaceutical companies to help them develop medicines. In return for the data, patients can use an app to organize their medical records and track their treatment progress, as well as seek second opinions.
Back in 2018, RDMD has raised $3 million in a seed funding round led by Lux Capital and supported by Village Global, Shasta, Garuda, First Round’s Healthcare Coop, and a group of leading healthtech angels. The funds are used to expand RDMD’s product offerings and address more rare diseases. This is similar to the business model of Flatiron Health, a Google-backed cancer data startup recently acquired for $2 billion.
How do they operate exactly?
Well, the company’s platform enables patients to share their medical data with researchers, with the goal of accelerating the development of new treatments for rare diseases. The platform aggregates patient data from a variety of sources, including electronic medical records, genetic testing results, and patient-reported outcomes. The company then uses this data to create a comprehensive profile of each patient, which can be used by researchers to better understand the disease and identify potential treatment options.
If you’re a potential competitor of RDMD and seeking reliable software development services to enhance your healthcare product offerings, Elinext can help. Contact us to discuss your needs and how our team of experienced developers can support your project.
Mendel.ai and Mendelian
Mendel.ai is also a startup from San Francisco. It uses artificial intelligence (AI) to improve the diagnosis and treatment of rare diseases. The company’s platform analyzes patient data to identify patterns and correlations that can be used to develop personalized treatment plans.
They see their mission as enabling healthcare organizations to learn from the journey of every patient. They make this possible through a proprietary end-to-end AI platform, quality-controlled by a professional team of trained clinical experts. Mendel raised $40 million in Series B funding back in 2022. Their platform uses a combination of natural language processing, machine learning, and data analytics to analyze patient data.
The company’s AI algorithms are trained on large datasets of medical records and genetic data, enabling them to quickly identify patterns and make accurate predictions about a patient’s condition. One of the key benefits of Mendel.ai’s platform is its ability to identify rare diseases that might otherwise be missed.
By analyzing large amounts of patient data, the company’s AI algorithms can identify patterns that are indicative of rare diseases, even if the symptoms are not immediately obvious. They are not the only ones who work in the field. Their British competitors with a very similar name to the company – Mendelian, also operate in the same manner. They recently received €1.58 million to accelerate disease diagnosis. Their MendelScan is an AI case-finding tool that has been deployed in more than 50 primary care practices in England’s NHS.
The software aims to improve the process of identifying and diagnosing patients with rare diseases on a larger scale, reducing the burden on the healthcare system. It helps match patients with the most suitable management and treatment options available, ensuring they receive optimal care. Once again, AI digs through data and gets some insights to be acted upon.
Invitae
Invitae is yet another health tech startup based in San Francisco. They provide genetic testing services for individuals with rare diseases. The company’s platform enables patients to easily access genetic testing, which can help to identify the underlying cause of their condition.
Invitae’s genetic testing services are designed to be comprehensive, analyzing a patient’s entire genome to identify any mutations or genetic variants that may be associated with their condition. The company also provides patients with access to genetic counselors, who can help to interpret their results and provide guidance on the next steps.
One of the key benefits of Invitae’s platform is its ability to provide patients with answers quickly. The company’s genetic testing services are designed to be fast and accurate, enabling patients to get the information they need to make informed decisions about their healthcare.
Rarebase
This startup comes from Germany and focuses on developing treatments for rare diseases. The company’s platform uses a combination of AI, machine learning, and data analytics to identify potential drug targets and develop personalized treatment plans for patients.
Rarebase’s platform analyzes large amounts of patient data, including genetic data, medical records, and patient-reported outcomes.
The company’s AI algorithms then use this data to identify potential drug targets and develop personalized treatment plans that are tailored to each patient’s unique needs.
Their core product is The Function platform, a unified solution for drug discovery aimed at thousands of genetic disorders. It merges two distinctive data sets: one for large-scale drug screening and the other for genetic screening performed in neurons. The drug screen assesses the impact of thousands of small molecules on gene expression, while the genetic screen measures changes in expression after suppressing disease-causing genes. By merging these data sets, Function aims to identify potentially effective drugs that match rare disorder genes. The platform is designed to provide numerous therapeutic candidates that can be rapidly developed to help patients with rare diseases.
Challenges in the development of this software
Developing software for rare diseases can be challenging due to various factors.
Limited Data
As you can see from above, startups heavily rely on AI and ML in their software products. Therefore, they heavily rely on data. Modern EHR solutions and other patient data files storages are plenty, so info could be gathered quite easily.
An additional challenge is that rare diseases have a limited number of cases. This can make it challenging to develop accurate algorithms and predictive models.
Lack of Standardization
There is often a lack of standardization in the way that rare diseases are diagnosed and treated. This can make it challenging to develop software that works across different healthcare systems and geographies. That often leads to changing potential motto from “Let’s make the world a better place” to “Make this specific region a better place”. And also interlinked with the next challenge
Regulatory Challenges
Developing software for rare diseases may also be subject to regulatory challenges, including obtaining regulatory approval, and complying with privacy regulations. For instance, companies are obliged to follow HIPAA regulations in Northern America and GDPR in Europe. Despite those challenges, more and more startups operate in this field. The reasons are plenty: the market is very lucrative, this software empowers patients, and working in this field has a tremendous social impact. Sometimes it is a personal touch, like in the case of Onno Faber, the RDMD co-founder.
Summary
The development of healthtech startups focused on rare diseases is an exciting area of innovation in healthcare. We only mentioned five out of hundreds of startups worth mentioning and we already see how these companies help people with rare diseases manage their conditions and improve their quality of life.
From RDMD’s patient-centric research platform to Invitae’s comprehensive genetic testing services to Rarebase’s platform to help with pharma tasks, these healthtech startups are addressing the different needs of people with rare diseases. The companies accelerate the drug discovery process, improve diagnostic accuracy, and provide patients with a voice in the healthcare system.
As the healthcare industry continues to embrace digital health solutions, we can expect to see even more innovation in the area of rare diseases. If you want to get into the game, contact Elinext for a software development partnership. Maybe pretty soon you’d be leading the way, providing hope and new possibilities for individuals with rare diseases around the world.
