The saying knowledge is power is especially true for patients and families who are dealing with rare diseases.

“When we try to understand how to treat and bring treatments to rare diseases, we’re thinking about both resources to educate, empower, and provide resources to the rare disease community,” Eric Sid, the program director of the Genetic and Rare Diseases Information Center at the National Institute of Health, told NPF Covering Rare Diseases fellows.

GARD provides free, comprehensive, plain-language information on rare and genetic diseases to the public and is accessible through both its website and contact center.

Translational science and research matters.

Sid said they are specifically looking at the challenges and obstacles that patients face in their initial online research.

Often in the patient journey, when an individual starts having symptoms they go to their doctor and then start their search online. This includes articles that journalists write, as well as medical professionals, online research and social media.

“Our goal [at NCATS] is really to tackle ongoing challenges in translational research so that we can make new treatments reach people faster,” Sid said. “Part of that is involving the entire translation pipeline. When we talk about translation, we’re talking about moving from different stages of research, from bench where you’re at maybe the microscope and looking at cell lines, to then getting a treatment, to then seeing that in clinic.”

Within GARD’s contact center, it’s easy to individually tailor information to the person who calls in. It’s harder to know the needs of web visitors.

“We need to be thinking about what types of information currently exist, and we need to be thinking about how we can shift that information, accelerate it and be able to deliver it to patients more rapidly.”

‘We can’t do this one disease at a time.’

Individual diseases may be extremely rare, but collectively they’re common, Sid said. 

“For us, part of the solution is to understand really what’s similar across diseases, because if we want to address 10,000 plus diseases and trying to figure out treatments, we can’t do this one disease at a time. We have to think about what’s similar across multiple diseases and try to develop multiple treatments at a time.”

Journalists make a difference.

“As journalists, you’ll be giving voice to the stories of rare disease patients and their families,” he said.

Sid said the key is to also give direction to others who are looking for stories that relate to their own experiences – and encourage them to build resilience.

Access the full transcript here.

This training is sponsored by Fondation Ipsen. NPF is solely responsible for the content.