Rare Disease Discoveries Beget Rare Disease Discoveries

by Quinton Banks, PhD, Associate Director, MI Philanthropy

Getting a diagnosis of a rare disease is a devastating experience. Not recognizing the name of the condition is part of it, but even more draining is the rollercoaster of emotions, discovering that finding an effective treatment will be difficult, and for many, there is no cure.

This is the experience of many of the 300 million people worldwide who live with a rare disease. In the United States, a rare disease is defined as one that affects fewer than 200,000 people, yet there are more than 7,000 unique known rare diseases. While there has been amazing progress in understanding some of these diseases, the fact remains that treatments do not exist for over 90 percent of these conditions. The road to any individual treatment is difficult, but there are organizations engaging in the hard work necessary to make a more hopeful future.

Milken Institute Science Philanthropy Accelerator for Research and Collaboration (SPARC) has been working with the Ann Theodore Foundation to develop and implement strategies to speed up progress toward effective treatments for sarcoidosis. Sarcoidosis is a rare disease that predominantly affects the lungs but can affect any organ in the body, potentially causing organ damage, reductions in quality of life, and, in some cases, sudden death. Many diagnosed with sarcoidosis are prescribed corticosteroids, which suppress the immune system. For some, but not all, this can alleviate symptoms, but long-term use of corticosteroids can lead to harmful side effects, like diabetes and osteoporosis. While there are promising novel drugs in clinical trials for sarcoidosis, more research is needed to make sure that people living with this condition will be able to take a treatment option that works for them. As such, the Ann Theodore Foundation is currently supporting a grant program focused on fundamental research in sarcoidosis to uncover new mechanisms that could be leveraged to develop life-changing treatments.

This matters because attention to and progress in one rare disease, like sarcoidosis, can contribute to progress in other rare diseases, like chronic granulomatous disease or Blau syndrome. While scientifically distinct, learning more about the molecular mechanisms of sarcoidosis could provide insights and ideas toward understanding the underlying biology of other rare diseases.

The downstream effects of learning about one disease have already been seen in the cancer space. There are hundreds of types of cancer, each with its own risk factors, causes, and treatments. However, there are organizations that work for improved conditions, care, and treatment for individuals living with all types of cancer, like the American Cancer Society, the American Association for Cancer Research, and the Prevent Cancer Foundation. These organizations provide a strong model for how to effectively group conditions together to produce tangible results for all individuals living with cancer. These organizations have substantially contributed to new treatments and care practices for people living with cancer. Grouping a variety of rare diseases together, with their varied causes, symptoms, and biology may sound unwieldy, but taking a collective approach has shown to be effective. There is power in unity.

There is another common denominator in this approach: philanthropic resources. In rare disease and in cancer, philanthropy has provided additional support to researchers, administration, and institutions to accelerate progress and improve conditions for all who are affected by these diseases. Target ALS and the Cystic Fibrosis Foundation are incredible examples of progress achieved with philanthropic support.

Cancer research has taught science a valuable lesson: progress toward one disease field has the potential to drive progress in others. Many rare diseases share similarities with more common conditions as well, and breakthroughs in one space can lead to breakthroughs in others. New approaches and therapies developed for rare diseases can be tested and implemented in rare and common conditions that lack those resources. Philanthropy has shown that it can facilitate the discovery of new methods through its outsized impact. A focused and intentional plan with funding that can be responsive to field needs and developments while functioning with fewer bureaucratic barriers can support innovation at the research, organizational, clinical, and regulatory levels and offer not just hope but progress for the millions who experience rare diseases.

February 29 marks Rare Disease Day. Click here to learn more about MI Philanthropy's work to advance research for rare disease.

This article originally appeared in Giving Smarter, an MI Philanthropy series via GivingCompass. Written by Quinton Banks, PhD, Associate Director, MI Philanthropy