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Rare Disease Research and Its Potential To Unlock Medical Mysteries

We now live in an age where we are closer to being able to decipher the greatest medical mysteries than ever before. Rare diseases, which were once thought of as untreatable cases, could be at the forefront of unlocking some remarkable discoveries with their unique characteristics and symptoms.

With so many possibilities available for medical professionals looking into rare disease research and treatments, it is becoming increasingly important for healthcare workers and business alike to understand just how powerful this form of research can be. Not only will exploring this topic enables us to further dedicate resources towards pioneering treatments that may have previously been overlooked—but also provide a brighter outlook on potential cures for those affected by these and other conditions.

In the CareTalk episode, “Why Rare Disease Research is So Important” Co-host, David Williams is joined by Nasha Fitter, CEO of FOXG1 Research Foundation, which is dedicated to finding a cure for FOXG1 Syndrome and Vice President of RWE and Ciitizen Platform at Invitae, to shed light on the importance of rare disease research, the challenges it faces, and the promising developments in this field.

Understanding Rare Diseases: What They Are and Why They Matter

A rare disease is a medical condition that affects only a small number of people compared to the general population. The exact definition of a rare disease varies depending on the country and the organization providing the classification. In the United States, a rare disease is defined as one that affects fewer than 200,000 people, while in Europe, a disease is considered rare if it affects fewer than 1 in 2,000 people. Although each rare disease affects a small number of people, there are thousands of different rare diseases, and as many as 300 million people worldwide are living with a rare disease.

Genetic mutations or environmental factors can give rise to these conditions, with many having no cure or treatment. Despite their significance, rare diseases are often overlooked and lack funding, leaving those affected and their families to grapple with the consequences. Those living with rare diseases frequently face challenges in obtaining an accurate and timely diagnosis, and their families may have limited resources for treatment and support. Progress in research and treatment is essential to enhance quality healthcare for patients with rare diseases and their loved ones.

“Rare diseases are not that rare. When you add up all the, all the conditions and you know, now we're actually up closer to 10,000. But the truth is, the majority of rare diseases are actually defined as ultra-rare, where you have less than 2000 patients in the United States, and that is the big chunk of the problem”. – Nasha (CareTalk)

Rare Disease Research: The Path to Discovering Treatments and Cures

Rare disease research is a complex and intricate field that requires substantial expertise and resources. Scientists, physicians, and patient advocates pool their knowledge and expertise to identify and study rare diseases. Through a combination of laboratory experiments, clinical studies, and patient surveys, these experts aim to shed light on the underlying causes of rare diseases, as well as potential treatments.

“Only about 5% of the 7,000 or so known rare diseases have treatments, so that makes it a real challenge for families, foundations, pharma companies, anybody trying to do something about it. But there is hope, including the Orphan Drug Act, F D a, programs to speed development, advances in genomics, and the digitization and interconnectivity of patient data”. – David (CareTalk)

Scientist performing rare disease research

Struggles and Limitations of Rare Disease Research

Rare disease research faces a myriad of challenges that hinder progress towards finding effective treatments for those affected. One of the primary issues is the lack of funding available for research, as these diseases do not affect a large population. This leads to a lack of resources, expertise, and technology needed to conduct thorough research. The vast diversity in rare diseases makes it challenging to conduct clinical trials with large enough sample sizes to provide reliable data.

Further complicating matters, diagnostic tools may not exist, making it difficult to properly identify the disease in question. Additionally, there is a lack of interest amongst pharmaceutical companies, as marketing drugs for rare or orphan diseases may not be as profitable. These limitations necessitate a collective effort to raise awareness and shift priorities, as finding cures for rare diseases is crucial for both the affected individuals and the advancement of medicine as a whole.

“I think there's a lot more we can do to innovate and make this experience better and mainly just have clinical trials that are more effective. Even with everything we're doing, the majority of clinical trials fail. So we need better ways to track endpoints to make sure that, you know, these drugs actually have a therapeutic effect on patients track that effect”. - Nasha (CareTalk)

Promising Benefits and Advancements in Rare Disease Research

Advancements in rare disease research hold great promise for patients and families affected by these conditions. With the development of technologies like genome editing and CRISPR-Cas9, scientists now have unprecedented insights into the underlying genetic causes of rare diseases. This knowledge is driving the development of targeted therapies that can address these causes at their source, offering hope for improved outcomes and quality of life.

Additionally, advances in diagnostics and data sharing are enabling more accurate and rapid identification of rare diseases, reducing the time to diagnosis and improving access to appropriate care. Despite its many challenges, the benefits of this research are immeasurable. By understanding the underlying biological mechanisms of rare diseases, researchers can shed light on basic biological processes, leading to the development of new diagnostic tools and therapeutic options for patients with rare and common diseases alike.

Furthermore, rare disease research has the potential to uncover novel drug targets and biological pathways, ultimately contributing to a deeper understanding of human health and disease. As the field of rare disease research continues to grow and evolve, we can expect to see even more promising developments on the horizon.

“There’re ways that we need to think about innovative trial design. The good news is that there are a lot of companies innovating in the space. A lot of organizations looking for better endpoints, better biomarkers and the FDA is open to listen and so, and I think the F D A basically needs to be convinced”. - Nasha (CareTalk)

Rare disease research in a laboratory

How Can Improvements in Rare Disease Research Help Unlock Cures and Treatments for Other Diseases?

Looking ahead, proactive research into rare diseases holds great potential for medical advancement. While it is impossible to predict the exact outcome of such work, the promising results call for greater investment and collaboration across institutions. As breakthroughs in rare disease treatment hold potential implications far beyond their specific clinical application, there is tremendous potential to unlock cures that may be applicable to a broad range of unexplainable illnesses.

By taking the time to further invest in research on these rare diseases and collaborating with multiple resources and experts, we can help find ways to ease suffering for many and better understand why certain treatments work or don’t work. It is our hope that increased access to research opportunities will bring about great advances in medicine that make these mysteries a thing of the past.



CareTalk is the only healthcare podcast that tells it like it is. Join hosts John Driscoll (President U.S. Healthcare and EVP, Walgreens Boots Alliance) and David Williams (President, Health Business Group) as they provide an incisive, no B.S. view of the US healthcare industry.



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