What are the important emerging trends in rare disease research?

Oodaye Shukla: Advances in analytical techniques, the integration of health care data and genome sequencing are accelerating drug discovery and development. These factors in turn are creating demand to drive the development of rare disease therapies.

Over the years, the annual number of rare-disease therapies approved by the FDA has increased. The ability to rapidly generate genome- and exome-sequencing results has enabled researchers to discover new rare diseases and develop more precise and targeted therapies. 

Cindy Jackson: Over the last three years, the interest in funding gene- and cell-based therapies has increased rapidly. 2017 saw the first approval of a gene therapy compound for the treatment of Leber hereditary amaurosis and retinitis pigmentosa, which are both inherited rare retinal diseases.

How can the general public help support the rare disease community?

OS: There are between 25-30 million people in the United States suffering from rare diseases, or about 1 in 10 Americans. Awareness, education and support of patient advocacy groups are the most effective ways to support the rare disease community.

A list of advocacy groups can be found at www.rarediseases.org, maintained by the National Organization for Rare Disorders. Supporting these groups is key to bringing new cures for rare diseases to the market. Many factors determine whether to invest resources in developing a new rare-disease therapy, but having a proactive patient advocacy group has led to new treatments.

CJ: The first thing for the public to realize is that rare diseases are really not that rare. With more than 7,000 disorders being defined as rare, it is likely that virtually everyone knows someone who is affected by a rare disease. Education and awareness are key to providing support to these individuals. It is this knowledge that will drive community support whether it be to participate in a fundraising event, volunteer with a service organization that focuses on patients and families impacted by rare diseases or provide in-kind service or support to a patient advocacy group or foundation. 

How have new technological developments helped improve treatment of rare diseases?  

OS: As health technology becomes more powerful, we are beginning to leverage vast amounts of collected patient data to proactively find undiagnosed patients and shorten the time to diagnosis. This has been accomplished by applying scalable analytics such as AI and machine learning on data sources such as healthcare claims, genomics and prescription data. These technologies are now mature enough to enable earlier diagnosis of these patients hidden in health care databases. We can now reach the physicians who treat these patients and educate them about optimal therapies while maintaining HIPAA compliance.

After a patient has been diagnosed with a rare disease, the next step is to apply the best therapy. Most rare diseases have a genetic cause. Genetic therapy holds great promise to cure certain rare diseases permanently rather than addressing its symptoms.

CJ: The increasing number of approvals for therapeutic genetic modification is making a significant impact on the treatment of a number of rare diseases. For the first time, there are drugs and biological compounds that can positively affect the lives of people living with these diseases.

For example, in December of 2016, the first-ever treatment for Spinal Muscular Atrophy, a devastating congenital neurologic illness, was approved by the FDA. The pipeline for other medications just to treat this one rare disease is very robust, which is a huge change from just ten years ago. The interest in drug development by pharmaceutical and biotech companies continues to be high, as does the interest in funding these programs. However, the fact remains that the vast majority of rare disease have no approved treatments. Continued interest in researching these diseases should narrow this gap in the coming years.