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Case study: ReNU Syndrome United
Setting up own support groups to help people with same condition
A vital role that patients play is in establishing patient organisations. These organisations help patients find each other and can provide a strong voice to advocate in health care and research. In the following case study, you will see an example on how one such organisation was started and the impact it has had.
Origins
In early 2024, researchers made a surprising new discovery in the ‘dark genome’ (or non-protein coding region of the genome), which led to an entirely new diagnosis of a neurodevelopmental condition. The affected gene is called RNU4-2. Symptoms include global developmental delays, poor or absent speech, seizures, osteoporosis, hypotonia, and brain anomalies. Many children with this disorder also exhibit joyful personalities, use alternative communication, love music and water, and thrive in routines. It is estimated that approximately 100,000 people worldwide are living with ReNU syndrome.
Lindsay Pearse and Jessica Margrill, two of the co-founders of ReNU Syndrome United, explain what happened next:
In April 2024, soon after receiving the RNU4-2 diagnosis, we created the “RNU4-2 / ReNU Syndrome Family Connect” group on Facebook. Families began joining from around the world within days. As of mid-2025, the group includes over 420 members globally.
The group gave families a place to ask questions, share experiences, and recognize themselves in one another’s stories. Beyond medical descriptions, parents bond over similar behavioral anecdotes such as children clapping along to music or enjoying water play.
These moments foster connection and trust, the foundation of our community. Shortly after the Facebook group formed, the founders also created a website as a central hub for education and connection, because at the time there was no centralized website for this newly discovered disorder. The site offers access to scientific publications, family stories, advocacy tools, and global community updates. It’s quickly become the primary resource for newly diagnosed families and professionals.”
The Power of Family Advocacy
Remarkably, the RNU4-2 community even had a key role in officially naming their genetic disorder. Lindsay and Jessica continue:
At first researchers were planning to call the RNU4-2 disorder “NEDHAFA syndrome”, an acronym for the common symptoms associated with the disease (neurodevelopmental disorder, hypotonia, anomalies of the brain, facial dysmorphia, and absent speech). Once this was posted in the Facebook group, there was understandably swift negative feedback from parents opposing this suggested name that solely focused on the limitations of our unique and resilient kids.
One parent shared that they had started calling the syndrome “renew” because of the RNU letters in the RNU4-2 gene and because the diagnosis had helped renew their hope for the future. Many other parents chimed in and expressed their enthusiasm for lobbying to rename the disorder “Renew” or “ReNU” syndrome. With the help of one of the primary RNU4-2 researchers, the parent group successfully lobbied for the official disease naming entity (OMIM.org) to change the name of RNU4-2 disorders from “NEDHAFA” to “ReNU syndrome”.
Setting up a patient organisation
It is highly unusual for so many people to be diagnosed with the same rare disorder in such a short period of time. One benefit of this can be the possibility of establishing and mobilising a patient organisation very rapidly. Lindsay and Jennifer explain:
A group of six family members of ReNU syndrome patients came together and incorporated as a nonprofit in the second half of 2024, thus officially starting the patient advocacy organisation ReNU Syndrome United.
The founding board of directors are from a range of backgrounds including the medical, legal, accounting, nonprofit, and marketing fields, and each brings a range of expertise and skills that complement the mission to build our community, raise awareness, and advance research for our ReNU community.”
Areas of focus
Using their skills, experience and network of contacts, ReNU Syndrome United has already been able to identify and drive forward work on several priority areas, including:
• Learning from those who have walked this path previously: Board members have been learning directly from other patient group leaders, so as not to ‘reinvent the wheel’.
• Establishing a strong international Scientific Advisory Board: the patient organisation has built relationships with the researchers who discovered ReNU syndrome and cultivated a strong social media presence, to build and develop productive relationships with many in the scientific community who are interested in this discovery and advancing therapeutic research.
• Collecting patient data & advancing diagnostics: the organisation has established a patient registry, created an interactive international patient map, and is in the process of establishing a natural history study. They are also working with genetic testing companies to add RNU4-2 to diagnostic panels and re-analyze past data.
• Bringing families & scientists together: Early on, ReNU Syndrome United helped facilitate virtual Q&A panels with the research teams who discovered ReNU syndrome and the families, establishing a shared connection and trust. In July 2025 they hosted their first in-person family conference and scientific symposium.
ReNU Syndrome United has also sought to join and learn from relevant umbrella organisations (e.g. Global Genes, Rare Epilepsy Network, Combined Brain, NORD), to raise awareness of the condition in the media, and to think longer term about how to structure their organisation to make it sustainable.
Key Takeaway
Lindsay and Jessica say:
ReNU Syndrome United grew from a small family Facebook group into a global force for connection, diagnosis, and change. For others starting the journey, the message is clear: you don’t need to have it all figured out—just begin. Build connection, center the patient voice, and bring in others who share your drive. Together, we can renew hope and shape the future of rare disease advocacy.”
Reflection/discussion point:
This case study includes a wide variety of patient advocacy activities and achievements. Have you been involved in any of these types of activities in your own advocacy work so far? If so what were some of the challenges you encountered? If not, which one do you find most striking?
© Wellcome Sanger Institute
This article is from the online course:
The Power of Patient Advocacy in Genomics: Influencing Research, Clinical Practice and Decision Making
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The Power of Patient Advocacy in Genomics: Influencing Research, Clinical Practice and Decision Making
