Three tools that help the genetic and rare diseases community

Three tools that help the genetic and rare diseases community
By Michelle Snyder and Lois Lander
Lois Lander
Manager, Health Counseling
Nov 13, 2019
Battling a genetic and rare disease can feel isolating, but you’re not alone. There are resources designed to connect and empower the genetic and rare disease community—helping patients take steps to improve their health. Here are three you should know about.

The Genetic and Rare Diseases Information Center (GARD)

Whether experiencing a complex set of symptoms, receiving a new diagnosis, setting up an advocacy group, or working to advance science, 16 million users a year turn to the Genetic and Rare Diseases Information Center (GARD), a service of the National Institutes of Health (NIH).

That’s because there’s nothing particularly “rare” about rare diseases. Approximately 30 million Americans live with one of the more than 7,000 known rare diseases. GARD is funded by one of the newest centers within the NIH, the National Center for Advancing Translational Sciences (NCATS), which serves as an important resource for the rare diseases community.

NCATS has a unique mission within the NIH to find innovative approaches to translational research that’s specifically designed to improve health. Many people who contact GARD are trying to figure out what is causing their complex symptoms. For years, they go from doctor to doctor, receiving few answers or little direction. If they do finally receive a diagnosis, that leads to many more unanswered questions about managing their symptoms and understanding what the future holds. GARD connects patients and their loved ones with others in the genetic and rare disease community, providing them with support and reliable information culled from NIH resources, medical textbooks, journal articles, and medical databases. Given how much information—and misinformation—is available online, it’s reassuring to know that GARD is a trustworthy resource.

We know this well. Our team of genetic counselors has partnered with the GARD program for over 10 years to disseminate scientific knowledge in plain language. We also develop glossaries, guides, tools, and processes for patient navigation as well as influence, convene, and coordinate information exchange among stakeholders at the annual Rare Disease Day at NIH.

The NCATS Toolkit for Patient-Focused Therapy Development

Connection is crucial, but so too are hope and progress. While social media satisfies the need for connection by offering platforms and forums for patients and support groups, progress occurs when patients partner with researchers and providers to drive scientific advances. The NCATS Toolkit for Patient-Focused Therapy Development helps patients organize, galvanize, share accurate information, and work effectively with researchers and providers throughout the translational research and development process.

As a patient or patient advocate, how do you find out about the most effective approaches to therapy development? The Toolkit answers this question by focusing on five areas: getting started, discovery, preparing for clinical trials, clinical trials and FDA review, and after FDA approval. By taking advantage of the resources in the NCATS Toolkit for Patient-Focused Therapy Development, patient advocacy groups can navigate the therapy development process with confidence.

The Rare Diseases Registry Program (RaDaR)

There’s also power in numbers. The more people we connect with shared conditions, the more we can learn. The Rare Diseases Registry Program (RaDaR) was launched in 2019 to provide insight on how to establish a registry that can stimulate research to advance treatment. Meaningful connections between the patient and scientific communities can drive innovative treatment approaches, improve clinical care, and advance health and well-being.

RaDaR gives patients a way to act when so much feels beyond their control. The resource walks patients through how to build a successful registry, whether the goal is to organize and grow a community, learn about patient experiences, or collect clinical data and partner for natural history studies.

We believe that accessible and accurate disease information, translational science, patient-driven therapeutic development, and active community partnerships help ensure data-driven health and wellness for those affected by genetic and rare diseases, and their families. The three resources outlined above play an important role in assisting these patients as they work to improve their health.

Go to ICF
Meet the authors
  1. Michelle Snyder, Manager, Project Management
  2. Lois Lander, Manager, Health Counseling

The latest marketing trends, uncovered.

Subscribe to get insights, commentary, and news sent straight to your inbox.