Accelerating the diagnosis of rare diseases.

Test our Prototype
babies born with a rare disease today.
What are we fighting against?
The slow process of rare disease diagnosis.
The benefits of our solution

Our tool gives physicians reliable diagnostic support. By entering medical history, symptoms and/or lab results, doctors will be provided with a list of the most likely diagnoses.

Doctors save time: Our platform offers precise information about the rare disease at hand, further diagnostic steps and information about ongoing studies and specialized centers for rare diseases.

Whenever new information is entered, the system dynamically adapts disease likelihoods. This mirrors the natural way a diagnosis is made.

By suggesting other possible symptoms associated with a specific disease, physicians can check if they have thought of everything.

Rare Diagnostics wants to become a reliable, extended arm for physicians to diagnose rare diseases faster and more precisely.

By analyzing all occurring symptoms of the patient, our tool calculates the most likely diagnosis, based on symptom frequency and specificity. Moreover, the tool will suggest to evaluate other possible symptoms of the patient and give a direct way to confirm the plausible diagnosis.

As nearly 80% of rare diseases are caused by a genetic mutation, our tool will provide genetic background information for each disease.

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Felix is a medical doctor who graduated from the Julius Maximilian University of Würzburg. He is a passionate researcher and clinician, particularly interested in personalized medicine and oncology. During his studies, he gathered various and extensive experiences in the medical sector from his projects which took place at Harvard, Stanford and Yale University.

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Federico is a postgraduate student of entrepreneurship at UCL. Together with his exposure to the London’s startup ecosystem, acquired at the King’s College London’s Accelerator, he is passionate about tech solutions for healthcare. Thanks to his studies (at KCL, UCL, and Stanford University) and work experience, he is currently aiming to improve the diagnostic process in rare diseases by assisting physicians with a digital diagnostic platform.

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Martin is a medical doctor who graduated from Ludwig Maximilian University of Munich. In addition to his clinical training, he acquired experience in research at the University of California, San Francisco. Through his dissertation that involved complex statistical modelling, he developed a profound knowledge about statistical methods and their applications.

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Claudia is a medical doctor who graduated from Pontificia Universidad Javeriana, Cali. She acquired experience in rare disease research at the Congenital Birth Defects Surveillance Programme of Cali. Currently, she is a master student of Medical Genetics and Genomics at the University of Glasgow.

Development Team
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Jacopo Madaluni

Technical Lead, API development, Cloud engineering

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Emilio Pascarelli

Front-end development, UX/UI design

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Daphne Demekas

Algorithm Design & Implementation

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Jakub Cerven

Front-end development, cloud engineering

More about our Mission
Diagnosing a disease is a difficult task. Diagnosing a rare disease is even more difficult. Nowadays, physicians are always short on time, they have to take care of more and more patients and administration. Since knowledge about diseases and even the number of diseases are always growing, it is extremely challenging for physicians to stay up to date - especially when it comes to rare diseases. Our tool wants to assist doctors and health care professionals in the diagnosis of rare diseases by providing information exactly where and when it is needed.
Our tool is designed to be as intuitive and fast as possible. When a physician enters the medical history of a patient, including symptoms and lab results, the tool combines these entries and calculates probabilities for rare diseases in real-time. This is done by weighting symptom specificity and frequency and merging the information with patient-specific data. With every newly entered piece of information, the algorithm adapts its suggestions dynamically. Doctors are provided with a list of the most likely diagnosis and a brief description of each disorder. The tool will even suggest additional symptoms that often occur in combination with the most likely diagnoses at hand. This way, physicians can check if they have thought of everything and by adding or ruling out more symptoms, the suggested diagnosis becomes more accurate. Finally, there is information on the required steps to confirm the diagnosis, for example measuring the amount of a certain enzyme or performing genetic testing.
A key part in battling rare diseases are clinical studies of newly developed drugs. The difficulty here is to find patients for study enrollment. Thus, as an additional feature, physicians can find information on ongoing studies and patient organizations for every rare disease in our database. They can easily pass on this information to the patient.

Help us to make the right diagnosis not so rare anymore.

Would you like to make a difference? Would you like to share your knowledge and experience to help rare disease patients? Then work with us!

If you have any questions, suggestions or comments, please contact us. We are happy to get in touch with you.