Team Telomere’s patient registry was recently featured in Nature, the world’s leading multidisciplinary science journal!

Megan O’Boyle is the parent of a 22-year-old daughter with a rare neurodevelopmental disease. She is currently the Patient Engagement Lead of the RARE-X Data Collection Program at Global Genes, a collaborative platform for global data sharing and analysis created to accelerate treatments for rare diseases. In this Q&A, Nature asks Megan a series of questions on patient engagement and involvement in rare disease research.

How can patients and their caregivers become involved with research?
The easiest way for most patients /caregivers to get involved in research is through patient advocacy groups. Advocates can help to build communities of patients who participate in research studies or advise researchers on how to design and implement their study.

How can patients benefit from research? 
Patients and caregivers are experts in these diseases. Only they know first-hand about the range of onset and severity of their symptoms and how these affect their quality of life. It is imperative to get data from as many different patients as possible. By making their data available, patients are more likely to be identified as potential candidates for a clinical trial and access to a new treatment.

Why is it essential to collect patient-reported outcomes as part of clinical trials in rare diseases?
Collecting patient-reported outcomes as part of clinical trials in rare diseases is critical. Treatment outcomes must be evident through laboratory tests, imaging, or other biomedical measurements. It is essential for the patients to be able to report, preferably in their own words, in addition to structured data collection, their experiences before, during, and after the treatment.

What do you hope the future of research on rare diseases looks like?
I hope more research is done on diseases with similar symptoms. We will never achieve treatments for the more than 10,000 rare diseases by researching them one illness at a time. Rare diseases are rare, but they are not necessarily unique. Many diseases have a lot in common. By grouping these diseases, patient support, research, and the development of treatments could be improved and accelerated.

Read Nature’s Article on RARE-X