## [Why research into rare diseases matters](/stories/why-research-rare-diseases-matters "Why research into rare diseases matters") [Patient Perspectives](/tags/category/patient-perspectives) # Why research into rare diseases matters Hundreds of millions of people worldwide await treatments for rare diseases. Feb 26, 2015 Addressing significant unmet medical need is a cornerstone of Novartis strategy and why we spend so much time and energy researching rare diseases. In honor of Rare Disease Day, an annual, international awareness-raising event, we’re speaking up about rare diseases and we invite you to do the same. By definition, a rare disease affects just a small fraction of the population—fewer than 200,000 people in the United States and fewer than 1 in 2,000 in Europe. But the combined impact of rare diseases is significant. According to Global Genes, approximately 7,000 rare diseases affect an estimated 350 million people worldwide—more than the population of the United States. Novartis works to improve the understanding of many rare diseases. In doing so, we’re not only helping patients who often have few treatment options, but also deepening knowledge of the molecular pathways that control multiple diseases. This may in time lead to new treatments for larger numbers of patients. “Our focus on rare diseases flows from our desire to help patients underserved by today's medicines,” said Dr. Mark Fishman, President of the Novartis Institutes for BioMedical Research (NIBR). “In addition, research into rare diseases teaches us fundamental mechanisms of human biology and disease, often applicable to more prevalent disorders.” Novartis scientists have investigated treatments for more than 40 rare diseases. The US Food and Drug Administration has granted us dozens of “orphan drug” designations. This is a special status designed to advance the development of products that demonstrate promise for the diagnosis and/or treatment of rare diseases. We also have more than 15 medicines approved for these “orphan” conditions. We have research and development programs underway in disorders ranging from aggressive systemic mastocytosis, a genetic disorder that can result in organ failure, to sporadic Inclusion Body Myositis (sIBM), an age-related muscle wasting condition. ## - ![60-80% of NET patients aren't diagnosed until an advanced stage.](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-1.jpg.webp?itok=ZdwwR-CV "60-80% of NET patients aren't diagnosed until an advanced stage.") View1/6 - ![GIST infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-2.jpg.webp?itok=ZH9IKz8t "GIST infographic") View2/6 - ![TSC infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-3.jpg.webp?itok=5EB0fPkS "TSC infographic") View3/6 - ![Enlarged spleen infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-4.jpg.webp?itok=uBPHspo4 "Enlarged spleen infographic") View4/6 - ![Acromegaly infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-5.jpg.webp?itok=hZ7sYfGn "Acromegaly infographic") View5/6 - ![Cushing's disease infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-6.jpg.webp?itok=YYGt-mNm "Cushing's disease infographic") View6/6 ![60-80% of NET patients aren't diagnosed until an advanced stage.](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-1.jpg.webp?itok=ZdwwR-CV "60-80% of NET patients aren't diagnosed until an advanced stage.") Most NET Cancer patients aren’t diagnosed until it has advanced. Learn more and raise awareness for others this Rare Disease Day. 1/6 ![GIST infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-2.jpg.webp?itok=ZH9IKz8t "GIST infographic") Have you heard of GIST? If not, it’s time to learn more for the 4,000 people who’ll be diagnosed in 2015. 2/6 ![TSC infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-3.jpg.webp?itok=5EB0fPkS "TSC infographic") TSComplex is more complex than its definition implies. Learn the facts and help educate others this Rare Disease Day. 3/6 ![Enlarged spleen infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-4.jpg.webp?itok=uBPHspo4 "Enlarged spleen infographic") Get Loud this Rare Disease Day by sharing info on how myelofibrosis and other rare diseases can cause debilitating symptoms and complications. 4/6 ![Acromegaly infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-5.jpg.webp?itok=hZ7sYfGn "Acromegaly infographic") Those with acromegaly are more likely to develop other serious conditions. Help us share the facts this Rare Disease Day. 5/6 ![Cushing's disease infographic](/sites/novartis_com/files/styles/image_gallery_full_width/public/2021-08/why-research-slideshow-6.jpg.webp?itok=YYGt-mNm "Cushing's disease infographic") Would you stand for these odds if it was someone you love? Help us share the signs and symptoms of this rare disease. 6/6 1. 2. 3. 4. 5. 6. [ Previous](#paragraph--15221) [ Next](#paragraph--15221) Learn more about specific rare diseases and join the conversation by sharing the images included in our slideshow (above). Follow [@Novartis](https://twitter.com/Novartis) on Twitter and retweet our [\#GetLoud](https://twitter.com/hashtag/GetLoud?src=hash), [\#RDD2015](https://twitter.com/hashtag/RDD2015?src=hash) and [\#RareDiseases](https://twitter.com/hashtag/rarediseases?src=hash) tweets. You can also support the cause in the following ways: - [Check out and re-pin from our Rare Diseases Board on Pinterest](https://www.pinterest.com/novartis/rare-diseases "Check out and re-pin from our Rare Diseases Board on Pinterest") - [Read and share our Facebook posts ](https://www.facebook.com/Novartis "Read and share our Facebook posts ") - [Watch our Rare Diseases YouTube playlist videos](https://www.youtube.com/playlist?list=PL6YfpI0VEjhveaVGlHnto7jRBD3OKBipB "Watch our Rare Diseases YouTube playlist videos")