UNDIAGNOSED?
If you are a patient, parent, or caregiver searching for answers about an undiagnosed condition in a loved one, please sign up for free access to RareLook™. You can print a Letter to Treating Physician that includes the selected signs and symptoms (S&S) and a list of predicted rare diseases to share with the physician.
If you receive this letter as treating physician, it grants you free access to RareMDx™. By complementing patient’s selected S&S with clinical data from the medical record, RareMDx instantly generates a differential diagnosis (DDx), listing 10 rare diseases ranked by probability. Each predicted disease includes a “More S&S” feature that enables physician to add previously not selected S&S to further refining the DDx.
Pharma companies that market one or more approved treatments and/or conduct clinical trials are kindly invited to sponsor free access to RareMDx™ for medical professionals.
Both RareMDx and RareLook are built from the ground up and operate on the same data platform, where each S&S is assigned a disease-specific relevance weight. Both tools share the same methodology, algorithm and combine human intelligence (HI) with the cautious support of artificial intelligence (AI).
4130
Rare Diseases
7631
Phenotypes (471 biochemical, 7160 clinical) in RareMDx
3800+
Phenotypes in layman terms in RareLook
145
Rare Disease Centers of Excellence in 39 countries
RareMDx™
FOR MEDICAL PROFESSIONALS
Providing a wide range of medical professionals with access to RareMDx™, a novel diagnostic tool focused on rare diseases, is a significant step toward shortening the diagnostic odyssey for those affected. With RareMDx™, clinicians can select the signs and symptoms presented by their patients. The platform then applies advanced algorithms to instantly generate a ranked list of suspected diseases based on probability. This streamlines the diagnostic process and helps direct healthcare providers toward rare diseases-inclusive DDx that might otherwise be overlooked.
RareLook™
FOR PATIENTS, PARENTS, CAREGIVERS and the GENERAL PUBLIC.
Patient centricity is essential. Patients, parents, and caregivers often have deep insight into an undiagnosed condition, and RareLook™ empowers them to partner with their treating physician in the search for a diagnosis. RareLook™ is the layperson version of RareMDx™, since not all medical terminology can be translated into everyday language. Users can print a “Letter to Treating Physician.” If you are a medical professional caring for one or more patients with a difficult-to-diagnose condition, this letter grants you free access to RareMDx™. It allows you to complement the patient’s reported signs and symptoms (S/S) with clinical data from the medical record to generate a rare disease–inclusive differential diagnosis (DDx).
Approximately 350 million people worldwide are affected by a rare disease, yet about 25% receive an accurate diagnosis. About 10-15% receive adequate treatment.
Blue whales are considered keystone species, playing a crucial role in marine ecosystems despite their small population. Likewise, rare diseases, though each affects only a small percentage of the population, collectively impact millions worldwide, underscoring the urgent need for focused attention, resources, and innovation in research, diagnosis, and treatment.
How to use each rare disease focused tool.
CREATE A INSTANT DIFFERENTIAL DIAGNOSIS OF UP TO TEN RARE DISEASES RANKED IN ORDER OF PROBABILITY.
Create an account.
If you are a medical professional, please subscribe to one of the available options to create an account and gain full access to our rare disease–focused diagnostic tool, RareMDx™.
If you are a patient, parent, caregiver, or member of the general public, you can create a free account to access our layman-friendly version, RareLook™.
Initial search for signs & symptoms - clinical features.
Once logged in, you’ll have full access to the tool, where you can enter signs, symptoms, keywords, and synonyms.
Please select only those that accurately match the patient’s presentation. Take your time to explore alternative keywords if needed. Once submitted, the tool will generate a list of predicted rare diseases, ranked by probability.
Secondary search to refine initial search results.
After your initial search, the tool will display additional signs and symptoms related to those you originally selected. You can review and select these to further increase the likelihood that one of the predicted rare diseases matches your patient’s presentation.
The more relevant signs and symptoms you select, the higher the validity of the differential diagnosis*.
Disease information per predicted rare disease.
RareLook™ provides the following information for each predicted disease:
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Disease name and synonym(s)
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Disease description
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Additional signs and symptoms not previously selected
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Direct web access to 145 Rare Disease Centers of Excellence in 39 countries
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Access to 2,061 patient societies supporting many of the 4,130 rare diseases included in RareLook™
RareMDx™ and RareLook™ are accessible in most countries worldwide in the English language and are currently optimized for use on laptop and desktop computers only. For the best experience, we recommend using Google Chrome as your browser.
Read what people have to say about RareMDx and RareLook.
It truly seems that this portal has the potential to be a very valuable resource to physicians in reducing the currently lengthy time it takes to reach a rare disease diagnosis.
Andrea Belkin Epstein
Former Executive Director of Global Genes. Founder/Principal Andrea Epstein College Consulting. United States.
This is quite obviously a good and needed initiative and I think you're on to something very important for patients.
Henri A. Termeer ✝︎
Former CEO, President and Chairman of Genzyme Corporation.
An online system accessible by all physicians would be extremely helpful.
Jim McGill, MD
Director, Department of Metabolic Medicine, Royal Children's Hospital. Herston, Queensland. Australia.
This is fascinating and very much needed.
Marlene E. Haffner, MD, MPH
Former Director of FDA Office of Orphan Products Development. Principal and founder of Haffner Associates. Rockville, MD. United States.
This sounds really amazing, and obviously a resource that this community needs desperately.
Nicole Boice
Former CEO, Global Genes. Non-Profit Executive at Rare-X Aliso Viejo, CA. United States.
This will be an important resource for clinicians and students.
Pramod K. Mistry, MD, PhD, FRCP
Professor of Medicine and Pediatrics, Professor of Cellular & Molecular, Physiology, Department of Internal Medicine (Digestive Diseases). Yale University School of Medicine. New Haven, CT. United States.
I absolutely like it and looking forward to start using it and recommending it to my colleagues.
Tinatin Tkemaladze, MD, PhD
Professor of Department of Molecular and Medical Genetics, Tbilisi State Medical University TSMU. Tbilisi, Georgia.
EVERY DAY is RARE DISEASE DAY!
RareMDx™
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RareLook™
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