October 2025 ReNewsletter
ReNU Community,
As we celebrate 🎃 Halloween and our 🎂 1st birthday as an organization, we’re excited to share some important updates on the progress we’re making together in the ReNU syndrome community!
We are actively working to advance research by identifying and connecting with partners who share our commitment to understanding and treating ReNU syndrome. One of our top priorities is establishing hospital systems as Centers of Excellence, where ReNU patients can be seen by clinicians with deep expertise and receive coordinated, high-quality care.
In parallel, we’re laying the groundwork for establishing a ReNU biobank and both retrospective and prospective natural history studies to better understand the progression of ReNU syndrome over time. Be on the lookout for more information soon regarding these initiatives and how to get involved!
We’re also proud to collaborate on a ReNU epilepsy-focused study with the Pediatric Epilepsy Research Consortium (PERC), facilitated by Jason Coryell, MD and ReNU mom Kim Salazar, MD. Thank you to Kim for coordinating this effort and to the ReNU families that participated in the first focus group meeting this past month.
Beyond research, we’re building strong partnerships with umbrella organizations that amplify our mission—including the Rare Epilepsy Network, American Society of Gene & Cell Therapy, NORD, Global Genes, Combined Brain, and many groups focused on cerebral palsy, autism, epilepsy, and osteoporosis. These collaborations are helping us raise awareness, share resources, and advocate for the needs of our families.
We’re also working closely with diagnostic testing companies to ensure that all known ReNU variants are added to their panels—an essential step in improving early diagnosis and access to care.
Additionally, our amazing Fundraising & Awareness Committee has been hard at work preparing for Giving Tuesday – mark your calendar for December 2nd! Please see below for more details. The Global Committee is also going strong, with the Spanish association recently holding a weekend retreat/conference, the French association planning a nationwide meet-up on November 19th, and several ReNU families were recently featured on Spanish and Italian news broadcasts sharing their stories!
We’re energized by the momentum and deeply grateful for the support of this community.
If you’d like to volunteer or get involved in any of the initiatives mentioned above, please reach out. We’d love to have you on board.
With gratitude,
The ReNU Syndrome United Board
🩺 Announcing Our Partnership with Citizen Health to advance research for ReNU syndrome
ReNU Syndrome United is partnering with Citizen Health to address challenges our families face every day: making sense of complex medical information, accessing records, and feeling heard in the research process. Families will gain easier access to medical records while helping drive critical research forward. Through our partnership, securely organize medical records into a private, digital profile—no site visits required—get instant answers based on YOUR personal journey, and help power research that could lead to new treatments.
Your real-world experiences could contribute to critical natural history studies, enabling researchers to better understand ReNU, uncover patterns, and accelerate progress toward breakthroughs. This partnership brings:
AI Health Advocate tools - to help families understand medical journeys
Practical support - All records can be centralized and accessible in emergencies
Personal support - 1:1 onboarding for every family who needs it
Community strength - Together, we build the data that drives research priorities
Follow updates on renusyndrome.org/research for more information and instructions to register - coming soon!
🎙️ ReNU syndrome webinar in Spanish /
Únete a nuestro seminario web en español sobre el síndrome ReNU
Register here/ reserva ahora for our latest webinar for Spanish speaking families living with ReNU syndrome. We will be joined by experts to discuss the latest research and answer your questions.
Viernes 12 de diciembre de 2025 / 3:00 pm (hora del Reino Unido) / 4:00 pm (hora de España)
Acompáñanos en nuestro próximo seminario web dirigido a
familias que viven con el síndrome ReNU y también a
profesionales implicados en su seguimiento. Contaremos
con la participación de expertos que hablarán sobre las
últimas novedades científicas y responderán tus
preguntas.
Featuring / Presentado: Irene Valenzuela Palafoll, MD / Carol Rodríguez / Ernest Turro, PhD
💙 Warm hearts. Raise hope. Fund Research for ReNU this Giving Tuesday, December 2nd
Giving Tuesday is a global giving movement unleashing the power of radical generosity during the giving season to encourage good deeds following the traditional holiday shopping days. Since then, it has grown into a global movement that inspires hundreds of millions of people to give, collaborate, and celebrate generosity.
Let’s raise $500,000 to advance research; YOU can help us get there!
Get involved:
Share our Giving Tuesday campaign with the zeffy donation link on social media and with your networks
Engage businesses you’re connected to if they’re willing to support us
Host a “Cocoa for a Cause” stand or other fundraiser in your community
Post #ReNUsyndrome #ReNUhope #500Strong500KBold #GivingTuesday
Tips for Success: Add baked goods, crafts, have kids decorate signs or cups, share personal stories, ask your employer to provide a matching gift
Share your story: Message rachel.johnson@renusyndrome.org
💻 The Power of Patient Advocacy in Genomics: Influencing Research, Clinical Practice and Decision Making
ReNU Syndrome United contributed to Wellcome Connecting Science’s course on FutureLearn. Check out the the Case Study on ReNU Syndrome United or sign up for the full online course, for free!
Interested in learning more about patient advocacy or genetics? Our organization also has also partnered with NORD, the National Association for Rare Disorders. NORD offers RareEDU®, self-paced learning on a range of topics, from forming a patient organization to making it research-ready, to understanding your role in the drug development process. We invite you to take free courses at https://learn.rarediseases.org/.
🌏 Unique Guide - NEW Translations Available
The Unique Guide is now available in Spanish, German, and Chinese!
Massive thank you to Nuria Brämswig, Yuyang Chen, Anna Pelling and Unique for making this guide more accessible around the world!
Would you or someone you know like to volunteer to help translate the guide into other languages? Email united@renusyndrome.org to let us know!
🧬 NEW - RNUopathies.org website and group
The RNU community is quickly expanding! Shortly after discovering the effects of RNU4-2 genetic mutations, RNU2-2 / ReNU2 quickly came into the spotlight for having similar effects but presenting with more severe epilepsy, and we also learned about RNU5!
We have launched an umbrella group for these RNUopathies, along with a website and (Facebook) Meta forum for affected families to connect with each other and share resources.
On our quest for treatments, we may encounter opportunities for joining forces in clinical trials/testing, and we can all unite to navigate life with a rare diagnosis. The RNUopathies United Community is open to ALL RNUopathies, friends, familiy, clinicians, researchers, and advocates.
RNUopathies.org | https://www.facebook.com/groups/renuopathies
RNU4-2 at the Child Neurology Society Meeting
We are delighted to shared that RNU4-2 was mentioned during the Satellite Symposium of the 54th Child Neurology Society Annual Meeting where it was pointed out that “…real-world clinical cases, including rare and emerging conditions like ReNU syndrome, underscore the value of comprehensive genomic and transcriptomic approaches. “ - 2025 CNS Program, page 59
Open committee role alert! If anyone in our community is interested in becoming a liaison for us by following the latest news and developments on a specific specialty related to ReNU syndrome (neurology, vision, bone health, etc.) please fill out the Volunteer Survey to express your interest!
🗺️ MAP Updates
Thank you to everyone registered on our map! If your country isn’t mentioned, add it here.
Represented to date: Australia, Belgium, Brazil, Canada, China, Czech Republic, Denmark, France, Germany, Hong Kong S.A.R., Iceland, Ireland, Israel, Italy, South Korea, Netherlands, New Zealand, Norway, Poland, Romania, Russia, Scotland, Spain, Sweden, Switzerland, Turkey, Ukraine, United Kingdom, and the United States.
Our map is a powerful tool for getting RNU4-2 acknowledged globally. We have strength in our numbers, and are so happy that you have started to make more personal connections based on locations and variants. Every entry shows the world that we are unified, organized, and growing!
