Why RareMD?

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My journey in rare diseases began at Genzyme Europe in the early 1990s, where I witnessed firsthand the life-changing impact of Ceredase®, the first FDA-approved orphan drug for Gaucher disease. These experiences deeply inspired me. While some patients receive timely diagnoses, millions of others still face long, difficult diagnostic journeys, or remain undiagnosed altogether.

 

To help change that odyssey, I founded RareMD Inc. in 2016, following years of collaboration with clinical experts, patients, and industry leaders. Together, we developed RareMDx™, a digital diagnostic tool that helps medical professionals create rare disease–inclusive differential diagnoses – DDx. RareLook™ is the layman-friendly version, designed for patients, parents, and caregivers. Both tools are developed by human intelligence (HI)–curated research, selectively enhanced by artificial intelligence (AI).

 

Our mission is to offer RareMDx and RareLook as free global services to all users, medical professionals, patients, parents, and caregivers. However, we cannot achieve this without the financial support of pharmaceutical companies, who ultimately will become the fincancial beneficiaries when new patients are diagnosed and treated with one of their approved therapies. Learn more about our sponsor programs 👉 here.

 

Rare Social Responsibilty Initiave – RSRI:

 

We are proud to introduce this global initiative to provide free access to RareMDx™ for medical professionals in emerging countries and regions with limited healthcare infrastructure and resources. In return, participating users agree to share de-identified data, including the number of patients diagnosed, the disease identified, and key milestones in each diagnostic journey, from symptom onset to confirmed diagnosis.

 

Warm regards,

Dick Meijer

Founder & CEO
RareMD Inc.

 

Population affected by a rare disease.

  • Rare diseases typically affect fewer than 1 in 2,000 individuals.
    Ultra-rare diseases are even less common, impacting fewer than 1 in 50,000 to 1 in 1,000,000 people.

    Disease-specific data are often sporadic and fragmented, making it unrealistic to expect medical professionals to have sufficient knowledge of all 7,000 known rare diseases to establish timely and accurate diagnoses. As a result, an estimated 350 million people worldwide are affected by a rare disease, more than 95% of whom remain undiagnosed or misdiagnosed.

  • Key Facts:

    • ~80% of rare diseases have a genetic origin

    • ~65% are associated with a reduced lifespan

    • 50% of those affected are children

    • 30% of affected children die before their 5th birthday

    • Fewer than 500 of the 7,000 rare diseases have an FDA-approved orphan drug treatment

    With 350 million people globally living with a rare disease—and countless family members affected alongside them, the need for faster, more accurate diagnosis and accessible information has never been more urgent.

Patients/parents dilemma with rare diseases.

  • The diagnostic journey for rare disease patients is disproportionately long and often traumatic.

    • In the United States, it takes an average of 7.6 years to receive an accurate diagnosis.

    • Over 20% of patients waited 20, 30, or even 40 years before being properly diagnosed.
      (Source: bit.ly/3Pdl2dS)

    Patients often endure a stressful and humiliating process, being passed from one doctor to another. Many are forced to educate medical professionals about their own condition, while also searching the internet for information on possible diagnoses, treatments, specialists, and clinical trials.

    • 60% of patients in the U.S. report receiving conflicting information from healthcare providers.

    • They commonly experience a low quality of life and feelings of isolation.

Treatments options.

None of the approximately 700 currently approved orphan drugs will ever meet the unmet medical needs of tens of thousands of patients—if those patients are not properly diagnosed in the first place.

Only patients who receive an accurate diagnosis can access (early) treatment with an approved orphan drug or enroll in clinical trials for investigational therapies.

Diagnosing more patients with rare diseases, even those without existing treatments, will incentivize pharmaceutical companies with the right scientific and technological platforms to invest in R&D and develop new, first-in-class therapies.

Research & Development.

Hundreds of orphan-designated investigational drugs are currently being evaluated in approximately 500 clinical trials in the United States and around 1,600 worldwide.

It goes without saying: to develop more first-in-class orphan drugs, many more patients with rare diseases must first be accurately diagnosed, only then can they be enrolled in clinical trials and contribute to advancing treatment options.

 

Physicians’ dilemma with Rare Diseases.

Several systemic barriers hinder the timely diagnosis of rare diseases in clinical practice:

  • Rare diseases are insufficiently covered in most medical school curricula, leaving future physicians underprepared.

  • Physicians often struggle to recognize unfamiliar combinations of clinical features, which are common in rare diseases.

  • There is a general lack of awareness about local or regional clinical and scientific experts specializing in specific rare diseases.

  • Limited opportunities to network with other physicians further restrict access to shared expertise.

  • Rare disease patients often require longer consultation times, which most physicians cannot accommodate due to scheduling constraints.

  • Diagnostic referral loops between healthcare providers not only cause delays and frustration, but also allow for disease progression and worsening of symptoms, potentially limiting the effectiveness of early treatment or eligibility for clinical trials.

  • Current online search engines and medical websites do not offer adequate rare disease–specific diagnostic support, leaving both physicians and patients without reliable guidance.

Pharma companies. The ultimately financial beneficiaries.

It is the expectation that pharmaceutical companies that market approved drugs for rare diseases will sponsor RareMDx™. Under this model, sponsors receive a number of complimentary RareMDx subscriptions for distribution to physicians, corresponding to each rare disease for which they market an approved orphan drug.

The more sponsors that participate, the greater the number of physicians who gain (free) access to RareMDx. This increases the likelihood of accurate diagnoses*, more patients receiving treatment, and ultimately, greater incremental revenue and profit growth for sponsoring companies. Furthermore, a larger pool of newly diagnosed patients positively impacts clinical trial feasibility, improving design, reducing size and duration, lowering costs, and strengthening outcomes.

The most effective way to meet the unmet medical needs of millions affected by rare diseases is to diagnose them first, enabling pharmaceutical companies to invest in R&D and conduct clinical trials that lead to first-in-class therapies. This strategy creates and captures uncontested market space, positioning sponsors to realize significant return on investment from their approved orphan drugs.

What are Rare Diseases?

Rare diseases, also known as orphan diseases, are conditions that affect a small percentage of the population. In most cases, a disease is considered rare when it affects fewer than 1 in 2,000 individuals. These diseases can vary widely in their symptoms, severity, and prognosis. Many rare diseases are genetic in nature, but they can also result from infections, environmental factors, or other causes. Due to their rarity, diagnosing and treating these conditions can be challenging, and individuals affected by rare diseases often face significant medical, social, and economic burdens.

Challenges of Diagnosing Rare Diseases

Rare diseases are difficult to diagnose due to low awareness among healthcare professionals, symptom overlap with common conditions, limited diagnostic tools, fragmented data, genetic variability, and unequal access to specialized care across regions.

Our Mission, Vision, and Rare Social Responsibility Initiative - RSRI.

RareMD Inc., founded by a former Genzyme executive, is guided by leading rare disease experts and driven by a passionate team committed to shortening the time to diagnosis.

 

MISSION:

We are addressing the decades old and persistent dilemma of the diagnostic odyssey in rare diseases. Our innovative tools are designed to transform the diagnostic process, bringing timely answers to those in need and advancing the landscape of rare disease care.

VISION:

RareMD Inc. envisions a world where the majority of individuals affected by a rare disease receive an accurate diagnosis. Through innovative, accessible, and state-of-the-art diagnostic tools, we aim to transform the diagnostic odyssey, empowering patients and parents, supporting medical professionals, and accelerating diagnoses, access to approved treatment and enrollment in clinical trials.


CORPORATE SOCIAL RESPONSIBILITY INITIATIVE:

RareMD Inc. is committed to advancing global health equity through its Rare Social Responsibility initiative (RSRi), which offers free access to RareMDx™ for medical professionals in emerging countries and regions with limited healthcare infrastructure and resources.

In return for this complimentary access, RareMDx users agree to provide de-identified testimonials that include:

The number of patients who received a confirmed diagnosis.

The specific rare disease diagnosed.

A brief description of the diagnostic journey, from the first signs and symptoms to the final diagnosis.

Testimonials may be published on our website, optionally including the name of the treating physician, hospital, city, and country, if consent is provided.



RareMDx™

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RareLook™

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