There are more than 6000 rare diseases known today. Almost 400 of them have a therapy.
With an estimated 350 million people worldwide suffering from rare diseases, if all of these patients lived in one country, it would be the world’s 3rd most populated country.
The average time from symptom onset to diagnosis is nearly 7 years.
Many young doctors are not confident in referring patients with uncharacteristic symptoms to specialists.
80% of rare diseases are genetic. That means they are present throughout a patient‘s life.
25% of rare disease patients have had to wait between 5 and 30 years from early symptoms to confirmatory diagnosis of their disease.
40% of individuals suffering from a rare disease initially receive a wrong diagnosis. This leads to unnecessary medical interventions.
Rare disease patients on average visit 7 physicians before receiving a correct diagnosis.
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.
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.
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.
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.
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.
Technical Lead, API development, Cloud engineering
Front-end development, UX/UI design
Algorithm Design & Implementation
Front-end development, cloud engineering
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.