RareMDx™ for medical professionals

FINDING THAT ELUSIVE DIAGNOSIS EXPEDITIOUSLY.

RareMDx™ is an innovative rare disease-focused, phenotype-driven differential diagnosis tool.
It provides medical professionals access to a human-intelligence-based research database containing 7693 signs/symptoms, each meticulously weighted based on its relevance to the 4043 rare diseases in the database.
Based on user’s selection of signs/symptoms, RareMDx™ activates its probability algorithms and generates a list of suspected diagnoses of up to ten rare diseases, ranked in order of probability.
RareMDx™ enhances medical professionals’ understanding of rare diseases by broadening the scope of their differential diagnosis process with comprehensive rare disease-specific data. This empowers them to identify signs and symptoms that they might have overlooked, which could be distinct from those seen in common diseases.

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What is RareMDx™? Who is RareMDx™ for? Benefits of RareMDx™Contents of RareMDx™How to use RareMDx™Access RareMDx™
Doctor's hand holding a stethoscope and a mask

Who is RareMDx™ for?

RareMDx™ is specifically developed for use by frontline medical professionals who are typically the first point of contact and provide care for patients with undiagnosed disorders.

Rare diseases exhibit significant variability in presentation among patients, with around 60 percent displaying notable heterogeneity. The complexity of diagnosing rare diseases is compounded by the scattered nature of relevant data across various sources.

To tackle this challenge, we conducted extensive research and compiled a comprehensive compendium featuring 4043 different rare diseases and 7693 different signs/symptoms. This includes over 800 laboratory values with reference ranges published by authoritative medical boards.

RareMDx™ is tailored for frontline medical professionals who often encounter patients with undiagnosed disorders initially, streamlining the diagnostic process for rare diseases.

The benefits of RareMDx™

RareMDx enables medical professionals to do much more, efficiently, expertly and expiditiously.

  • 4043

    Rare Diseases in our database

  • 7693

    Signs & Symptoms

  • 45

    Rare Disease Centres of Excellence

  • 2061

    Rare disease organizations

For each predicted disease, RareMDx™ presents the following information;

  • Disease name and synonyms.
  • Disease description.
  • Typical disease-specific signs/symptoms that were not previously selected.
  • Age of onset.
  • Prevalence of the disease.
  • Directed web access to newborn screening - NBS.
  • Defected enzyme/protein.
  • Genetic profile.
  • Genetic, molecular, imaging and other test options.
  • Directed web access to Biopharmaceutical companies with vested interest in one or more predicted diseases.
  • Directed web access to ClinicalTrials.gov.
  • Directed web access to International Clinical Trials Registry Platform of the WHO.
  • Directed web access to International Classification of Diseases ICD-10/11 codes of the WHO.
  • Directed web access to PubMed publications.
  • Directed web access to registry programs.
  • Directed web access to clinical synopsis in Online Mendelian Inheritance in Man - OMIM.
  • Directed web access to 45 Rare Disease Centers of Excellence.
  • Directed web access to > 2000 Rare disease specific/advocacy organizations in over 100 countries.

How to use RareMDx™

Start your journey with RareMDx™ here.

Create an account.

RareMDx™ is tailored for medical professionals, including general practitioners, family physicians, pediatricians, genetic counselors and other medical professionals.

To access our comprehensive rare disease-focused diagnostic tool, please subscribe to one of the options listed at the bottom of this page. Medical students are also encouraged to subscribe to gain early familiarity with rare diseases in their careers.

RareMDx™ is accesible in almost all countries worldwide and currently compatible with the use of laptop and desktop computers only. We recommend using Google Chrome as the preferred browser for optimal performance.

 

Or …. invite one of your undiagnosed patients to use RareLook, conduct a search and print a ‘Letter to treating physician’. Have patient/parent or caregiver share letter which enables you to obtain free access to RareMDx. Whatever works to get an undiagnosed patients finally diagnosed! 

Initial search for signs & symptoms.

Once logged in, you’ll have full access to RareMDx™.

In the search box, type terms for signs, symptoms, synonyms, and keywords. Select only those that exactly describe the patient’s presentation. If uncertain, avoid selecting. Take your time to explore different keywords.

Choose at least four signs and symptoms, then click ‘Search Diseases’. This activates the probability algorithm, generating a list of up to ten suspected diagnoses. Keep selecting more signs/symptoms in this initial/primary search if possible. If a pathognomonic sign/symptom is chosen, only one suspected diagnosis (and its subtypes) will be listed.

Secondary search to refine your initial search results.

To refine your initial search results, hover over the name of a predicted disease and click on “More Symptoms”.

Review the list presented with typical disease-specific signs and symptoms that were not previously selected.

Select additional relevant signs and symptoms from the list, then click “Search Disease” again to complete the secondary selection.

Repeat this process for all predicted diseases to increase the validity of the suspected diagnosis.

Disease information for each predicted rare disease.

When you click on ‘Disease Info’ after hovering over the name of a predicted disease in RareMDx™, you’ll find the following information per predicted disease: Disease name synonym(s). Disease description. Prevalence of the disease. Age of onset of the disease. Genetic profile. Biomarkers. Biopharmaceutical companies with vested interest in one or more predicted diseases. ICD 10/11 International Classification of Diseases Codes. Directed web access to newborn screening programs. Directed web access to clinical trials. Directed web access to PubMed publications. Directed web access to registry programs. Directed web access to 62 Rare Disease Centers of Excellence. Directed web access to >2000 Rare Disease Advocacy Organizations in 109 countries who cover 2,329 of the 3,754 rare diseases included in our platform.

Many of these organizations have a Medical and Scientific Advisory Board of which most often clinical experts are members. That provides an opportunity for treating physicians to consult with local, regional, or national clinical experts.

 

 


 

 

Subscribe to RareMDx™ today and start the collaborative journey to finding that elusive diagnosis

Below are our three paid subscription options and one option for free access to RareMDx™ for treating physicians. If your patient provided you with a 'Letter to treating physician' please scroll down for more information how to use the code to obtain free access to RareMDx™ for 6 months.

Free access to RareMDx™ for treating physicians.

LETTER TO TREATING PHYSICIAN.

A patient, parent, or caregiver may have provided their physician with a ‘Letter to treating physician’. The letter includes selected signs/symptoms and suspected rare diseases as a result of their use of RareLook™, the layman’s terms version of RareMDx™.

 

RareMD offers physicians who receive such letter six months of free access to RareMDx™. Physician can sign up for this offer by using the access code included in letter.

 

Access to RareMDx™ enables treating physicians to complement signs/symptoms in letter with those in patient’s medical records.

SIGN UP HERE TO REDEEM YOUR CODE