The last day of February each year, we celebrate Rare Disease Day. The hope is not only to raise awareness for these lesser known and generally not as widely researched diseases-but also to impact lasting change for the patients. This year’s theme focuses on the importance of research and how it brings hope to patients and their families. In 2016, various projects such as the Cancer Moonshot 2020, brought an inspiring surge in cancer research, including research for rare diseases.
A rare disease, also known as an orphan disease, consists of less than 200,000 diagnoses each year. The National Institutes of Health has currently identified about 7,000 rare diseases. One example is mesothelioma, which is caused by exposure to asbestos. Each year, only about 3,000 cases are diagnosed; this is partially because of a long latency period (anywhere from 10-50 years) after exposure before symptoms start to show, making it incredibly difficult to diagnose mesothelioma. With approximately double the diagnoses each year, cholangiocarcinoma is also a rare cancer. Similar to mesothelioma, the symptoms often go unnoticed until the cancer has already progressed to a later stage. These are just two rare diseases that highlight the need for additional research and better diagnostic and treatment options for patients as many patients facing a rare disease go undiagnosed or receive misdiagnoses.
Approximately 30 million (1 in 10) Americans, are impacted by a rare disease, and only 5% of these diseases have approved treatments. Although the statistics seem daunting, in the past year alone, research has been given a much needed boost. The Cancer Moonshot Initiative led by former Vice President Joe Biden was launched to “win the war against cancer.” It’s an unprecedented collaboration including government agencies, pharmaceutical companies, scientists, and cancer research institutes. This program was created to rapidly accelerate cancer research, whether for common cancers such as lung cancer or for the rarer forms of the disease. The Blue Ribbon Panel consists of a smaller group of experts working in areas such as clinical trials, precision medicine, and cancer immunology, to reach the goal of achieving a decade’s worth of research in prevention, diagnosis, and treatment in just 5 years.
Other large initiatives outside of Cancer Moonshot also have taken form. The Chan Zuckerberg Initiative, formed by Facebook founder Mark Zuckerberg and his wife Priscilla Chan, seeks to find the cure for all diseases. This project was first launched at the end of 2015 with the goal of bringing together researchers to prevent or cure disease, but also to allow individuals to realize their full potential. As the couple explains on their site, they want to give hope for the future and give people a chance to do their most incredible work--which means not getting sick and suffering from an illness that puts such opportunities at risk.
One key component of this initiative is their Biohub, an independent research center that brings together scientists, physicians, and engineers. One project they’ve been working on is known as the Cell Atlas, where researchers are mapping the human body’s cells to determine how they work and the best ways to repair them. The initiative also acquired Meta, a research search engine that will allow scientists to easily find related research projects and identify the most promising studies for funding or collaboration. Advancements like these can help accelerate research and hopefully see more treatment options for patients.
The Chan Zuckerberg Initiative and Cancer Moonshot are just a few promising projects looking to enhance disease research as we know it. Ideally, funding and research can continue on this path in 2017 and beyond. If we can maintain such momentum, we could one day in the not-so-distant future celebrate cures on these health holidays instead of just hoping for better treatments. For now, the potential and hope for the future are strong.
Join us in helping to raise awareness for patients, families, and caregivers around the world who are affected by rare diseases. Research brings hope. Show your support on social media or have your organization become a "friend of Rare Disease Day."