Why RareMD?

   Thank you for visiting our website!

 

We appreciate your interest and look forward to assisting you. Please feel free to explore our resources or contact us for any questions or support.

 

I began my career in the medical/pharmaceutical industry and truly connected with patients and their families during my time at Genzyme Europe in the early nineties.

 

Witnessing the transformative impact of Ceredase®, the first FDA-approved orphan drug for Gaucher disease, on a young boy in Sweden—who was the first ever treated with this therapy in the country—left a lasting impression. Many similar experiences during my twenty-year tenure at Genzyme deeply inspired me. While some patients, like this boy, were fortunate to receive early diagnosis and treatment, countless others endure prolonged and challenging journeys due to the rarity of their conditions and a lack of awareness among healthcare professionals.

 

Motivated by these experiences, I committed to creating a practical solution that could help end the diagnostic odyssey for rare diseases. Over a decade ago, I began engaging with clinical experts, patients, and industry leaders to explore the development of a rare disease-focused diagnostic tool. In 2016, with the support of these stakeholders, I established RareMD Inc. Together, we developed RareMDx™️, a human intelligence-driven differential diagnosis tool for medical professionals, offering extensive information on thousands of rare diseases and their associated signs and symptoms. To ensure accessibility for all, we also created RareLook™, a layman’s terms version of RareMDx designed for patients, parents, and caregivers. RareLook offers the same functionality as RareMDx but in user-friendly language.

 

RareMDx empowers medical professionals by broadening their differential diagnosis scope with comprehensive, rare disease-specific data. This tool enables clinicians to identify overlooked signs and symptoms, facilitating accurate diagnoses and timely treatment. Ultimately, this leads to improved patient outcomes and enhanced quality of life. Our goal is to make RareMDx a sustainable, free service for all medical professionals globally.

 

To achieve this, we rely on sponsorship from pharmaceutical companies with vested interests in rare diseases. We provide Chief Medical Officers and other medical staff with complimentary access to conduct thorough testing, validating whether selected signs and symptoms accurately predict targeted diseases. For more details, feel free to email me directly.

 

We also invite clinical experts from Medical and Scientific Advisory Boards of patient societies to evaluate RareMDx. Their feedback is invaluable. Additionally, we offer a sponsorship program tailored to companies at various stages of development. For more information, please visit our sponsor page at https://raremd.com/sponsors/.

 

Over the past decade, we’ve devoted ourselves to developing RareMDx™ and RareLook™, and we are proud that both tools are now accessible to stakeholders in rare disease communities worldwide.

 

I sincerely hope that pharmaceutical companies with vested interests in rare diseases will support and collaborate with RareMD Inc. Their backing is essential to providing medical professionals with free access to RareMDx and addressing the unmet medical and diagnostic needs of millions worldwide. Thank you for your consideration.

 

If you’re a patient, parent, or caregiver, you can sign up for free access to RareLook. Select signs and symptoms, and generate a personalized ‘Letter to Treating Physician’ to share. This letter includes a code that physicians can redeem for six months of free access to RareMDx.

 

Please feel free to share information about RareMDx™ and RareLook™ on your social media platforms to help spread the word.

 

Thank you for your interest and support!

 

Kind regards,

Dick Meijer
CEO – founder

[email protected]

Population affected by a rare disease.

  • The prevalence of rare diseases typically affects fewer than 1 in 2,000 individuals. Ultra-rare diseases, on the other hand, typically impact fewer than 1 in 50,000 to 1 in 1,000,000 individuals in the population.
  • Disease-specific data are sporadic and scattered, making it unrealistic to assume that medical professionals have sufficient knowledge about each of the 7,000 rare diseases to establish proper and timely diagnoses. As a result, an estimated 350 million individuals worldwide are affected by a rare disease, with over 95% remaining undiagnosed or misdiagnosed.
  • Eighty percent of the approx. 7000 rare diseases identified has a genetic origin.
  • Sixty-five percent of rare diseases are associated with a reduced lifespan.
  • Fifty percent of individuals affected by a rare disease are children.
  • Thirty percent of children die <5th birthday.
  • About five hundred of the 7000 rare diseases are treatable with an FDA approved orphan drug.
  • Worldwide 350 million people around the world are affected by a rare disease with many more family members impacted.

Patients/parents dilemma with rare diseases.

  • It takes a disproportional amount of time to be diagnosed. On average it takes 7.6 years to be properly diagnosed in the United States. Over twenty percent of patients in the United States waited 20, 30, even 40 years before being diagnosed. Source: bit.ly/3Pdl2dS
  • Stressful, humiliating process of ‘passing’ from doctor to doctor.
  • Need to provide medical professionals with information about patient’s own disease.
  • Searching internet about diagnosis, treatment, specialists, clinical trials.
  • Sixty percent of patients in United States received conflicting info from their medical professional. They experience low quality of life and feeling of isolation.

Treatments options.

  • None of the current approx. 700 approved orphan drugs will ever meet the unmet medical needs of tens of thousands of patients if these patients are not properly diagnosed in the first place!
  • Only properly diagnosed patients can receive (early) treatment with an approved orphan drug or enroll in clinical trials with an investigational drug.
  • Many more patients diagnosed with rare diseases that have no treatment yet will incentify pharma companies with the required science and technology platform to access opportunities to invest in R&D to develop additional first in class treatments.

Research & Development.

  • Hundreds of orphan designated investigational drugs are evaluated in about 500 clinical trials in the United States and about 1600 worldwide.
  • Needless to mention that in order to be able to develop more first-in-class orphan drugs many more patients with different rare diseases have to be diagnosed in order to enroll in clinical trials.

Physicians’ dilemma with Rare Diseases.

  • In general medical universities do not sufficiently teach students about rare diseases.
  • Difficulty recognizing the unfamiliar combination of clinical features presented.
  • Unaware of rare disease specific local, regional clinical and/or scientific experts.
  • Lack of sufficient opportunities to network with other physicians.
  • Rare disease patients require longer time at physicians office. Time that most physicians don’t have.
  • Diagnostic referral loops between healthcare professionals is not only a source of delay and frustration, but also allow disease progression and symptom worsening, which can conflict with possible benefits of (early) treatment or participation in clinical trials.
  • Current on-line search engines and websites do not provide sufficient rare disease specific ‘diagnostic’ support.

 

Pharma companies. The ultimately financial beneficiaries.

  • It’s a strategic anticipation that pharmaceutical companies marketing approved drugs for rare diseases will sponsor RareMDx. Under this model, sponsors would receive a number of free subscriptions to RareMDx for distribution among physicians for each rare disease they have developed or marketed an approved orphan drug.
  • The larger the number of sponsors the larger the number of physicians with (free) access to RareMDx, the larger the potential number of diagnosed* and treated patients, the larger the growth of incremental revenues and profits for sponsors, increased number of newly diagnosed patients have a positive impact on clinical trial design, size and endpoints, duration, cost, and outcome.
  • The best way to meet the unmet medical needs of millions of patients affected by a rare disease is getting them diagnosed first, and  have pharma companies invest in R&D and conduct clinical trials to develop the first in class treatment for different rare diseases. That will enable companies to create and capture an uncontested market space. Ultimately pharma companies that developed and market FDA approved orphan drugs will appreciate a signifiant return on investment. 

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 pose challenges for diagnosis due to factors such as lack of awareness among healthcare professionals, similarity of symptoms with more common conditions, limited diagnostic tools, fragmented data, genetic heterogeneity, and geographic disparities in access to healthcare services and expertise.

Our Mission, Vision, Values and Corporate Social Responsibility Initiative.

RareMD Inc., founded by a former Genzyme executive, is supported by renowned rare disease experts on its board and a passionate team, focused on shortening the time to diagnosis.

 

MISSION:

Together with patients, physicians, and biopharmaceutical companies with an interest in rare diseases, we are revolutionizing the decade-old challenge of the diagnostic odyssey in rare diseases. Our innovative diagnostic tools will benefit many individuals, transforming the landscape of rare disease diagnosis and treatment.

VISION:

RareMD Inc is poised to become the global leader in rare disease-related digital services, serving as a comprehensive "one-stop-shop" to address the unmet medical needs of millions of undiagnosed and misdiagnosed individuals affected by rare or neglected tropical diseases.

VALUES:

The late Henri Termeer, former CEO, President, and Chairman of Genzyme Corporation, inspired and supported our R&D efforts, recognizing the importance of our initiative for patients. He told me that, "This is quite obviously a good and needed initiative, and I think you're on to something very important for patients."

CORPORATE SOCIAL RESPONSIBILITY INITIATIVE:

This initiative aims to provide free access to RareMDx™ for medical professionals and RareLook™ for patients, parents, and caregivers in emerging countries and regions with limited healthcare infrastructure worldwide. In return for complimentary access, RareMDx users are required to share solid de-identified data, including the number of patients who received a confirmed diagnosis, the specific disease identified, and details of the patient’s diagnostic journey from the onset of symptoms to a confirmed diagnosis.

This data can be collected through individual testimonials but, ideally, should be consolidated by publishing the findings in a peer-reviewed scientific journal. Such valuable insights can then be shared with peers in countries that have established healthcare systems and with biopharmaceutical companies, which stand to gain financially when newly diagnosed patients receive treatments with their approved therapies.

These companies can, in turn, afford to sponsor RareMDx and RareLook, thereby ensuring that these platforms remain a sustainable and free service for medical professionals and the public worldwide. This creates a win-win scenario: improved patient outcomes, accelerated rare disease diagnoses, and enhanced visibility for pharmaceutical companies' therapies.





RareMDx™

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RareLook™

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