Patient advocacy organizations

Gene-specific organizations

If you or a family member have received a positive genetic test result, there may be an advocacy organization dedicated to people with similar results.

Gene-specific advocacy organizations are dedicated to supporting families affected by a specific gene or genetic change (sometimes called a variant). These organizations may offer resources like educational materials and research updates tailored to the gene or genetic variant. Some also host family calls or meetings. 

Here’s how to find them:  

• Search online: Enter the gene or condition name along with keywords such as advocacy, support, or foundation. 
• Reference nonprofit websites: Small, condition-focused organizations often provide the most up-to-date information and resources and may be able to connect you with families living with the same condition. 
• Explore social media: Many advocacy groups begin as Facebook or LinkedIn communities. Try searching for “[gene name] support group” to find others with shared experiences. 
• Use AI tools: Try asking an AI tool, “Where can a family find advocacy or support resources for [gene/condition name]?” You can refine your results by adding your state, region or ZIP code. 
• Visit MyGene2.org: Search for others with the same gene or condition, connect with families, and indicate if you’d like researchers to reach out.  

For additional information, reach out to the other rare disease organizations listed in the other section of this page.  

There are hundreds of these organizations doing important work, so it is challenging for GeneDx to maintain a comprehensive list. Going directly to their websites ensures you access the most up-to-date information from each organization.

The most efficient way to find the organization(s) dedicated to your specific result is to conduct a web search for the name of the gene where your genetic variant was found (or the specific condition you’ve been diagnosed with), along with keywords like “advocacy,” “support,” or “organization.” 

Not all genes have an associated advocacy organization. In this case, we encourage you to consider reaching out to the more general organizations listed in the other section on this page.

You might also want to explore MyGene2 (www.MyGene2.org). This platform allows you to search for and connect with other families who share the same condition or gene variants, providing an opportunity to exchange information and offer support. You can also choose to make yourself available for contact by researchers.

Disease-specific organizations

Disease-specific organizations focus on a particular disorder or class of genetic conditions. These organizations often provide resources and support to families affected by that specific class of conditions, including educational materials, research updates, or family calls and meetings.

Advocacy organizations supporting broad communities

The following advocacy organizations provide support to families affected by rare disorders and other conditions. These organizations also support the undiagnosed community. These organizations serve as a central hub, offering relevant information on their websites and through webinars, conferences, and other events.

Child Neurology Foundation

Courageous Parents Network

Global Genes

National Organization for Rare Disorders (NORD)

Rare Disease Diversity Coalition

*These resources are of an informational nature only. While GeneDx makes every effort to ensure accuracy, this information is not meant to endorse a particular group, be a complete list, nor serve as medical advice. GeneDx presents this opportunity as a courtesy to clinicians and families who may wish to obtain more details.