August 2025 Newsletter
Dear ReNU Syndrome United Community,
This July, over 200 researchers, clinicians, families, and ReNU kids came together at the ReNU Hope Conference, a gathering of hearts 💙 and minds 🧠 to share knowledge, build community, and advance the mission of understanding and treating ReNU syndrome. The energy was palpable, and the connections made will fuel our work for months to come. Videos will be forthcoming.
Highlights included:
Groundbreaking presentations from leading scientists
Family panels sharing lived experiences
Interactive sections on care, advocacy, and research
Please enjoy some images and videos from the Conference, and see below for additional opportunities to get involved!
With gratitude and renewed hope,
The Board of ReNU Syndrome United
#Blue4ReNU Campaign:
Wear Blue, ReNU Hope, Tag Friends, Donate!
Join the movement to raise awareness and support for ReNU syndrome! The#Blue4ReNU campaign is a simple but powerful way to show solidarity and spark conversations. How to participate:Wear blue and share your photo with #Blue4ReNU - Tag 3 friends to spread the word and grow the movement.
Donate any combination of $4 and $2 to symbolize the RNU4-2 gene and help fund critical researchTag @ReNUSyndromeUnited on social media and encourage others to join in! Every post, tag, and dollar makes a difference. Let’s turn the world#Blue4ReNU
Strategic Funding Priorities
Roadmap to Treatments
Your support fuels progress! We’ve identified 5 key initiatives critical to advancing research and care for ReNU syndrome
-
A longitudinal study to track ReNU progression, inform clinical trials, and identify measurable outcomes. This is an immediate top priority, as confirmed by our recent scientific symposium.
-
A centralized biobank to support research into the biology of RNU4-2 mutations. ption text goes here
-
Creating zebrafish and rodent models to study mutation effects and test therapies. These models are foundational tools for preclinical research.
-
Developing standardized care protocols for families and providers to enable earlier diagnoses and more targeted guidance.
-
Supporting biomarker development, gene therapy feasibility, and academic-biopharma collaboration to prepare for future clinical trials.
Your contribution helps move us from gene discovery to actionable interventions. Early philanthropic investment has an outsized impact—financially and symbolically.
FaceBase: 3D International Facial Recognition Study
-
The FaceBase team from the University of Calgary is conducting an international study aiming to better characterize genetic syndromes that include facial effects. This work includes the development of a computer-based tool that uses facial imaging to assist physicians in diagnosing these syndromes and assess severity to identify the likelihood of disease-related complications.
Many patients wait years for a definitive syndrome diagnosis or never receive one. Even with a diagnosis, understanding the severity and the likelihood of disease-related complications is crucial for clinical decision-making. This may arise due to the absence of known molecular markers for their condition, the presence of an unidentified mutation, or unclear clinical indications for genetic investigation. The FaceBase project aims to bridge this critical gap by enabling the rapid and cost-effective prediction of genotype and associated condition severity through a 3D image of a patient's face. During study participation, video recording is used instead of still-frame pictures to minimize challenges that can arise from movement and sensitivities during flash photography. This video is used to select the best moment/image to generate a 3D picture of the participant.
-
They will be at the Inaugural ReNU Hope Family Conference & Scientific Symposium to meet with individuals interested in helping advance this research by sharing their basic medical information and three-dimensional (3D) facial photographs.
Individuals interested in participating are encouraged to reach out to Alex from the FaceBase team at Research Row during the ReNU Syndrome United Conference on July 23rd, 24th, and 25th. The FaceBase study team can also be reached via email at facebase@ucalgary.ca. Participation in the study requires less than twenty minutes. More information can be found at https://hallgrimssonlab.ca/.
ReNU Clinical Survey Summary
-
This survey is led by Dr. Ian Krantz, Kelsey Crocker, and Asbaa Khan with the support and expertise of ReNU Syndrome United board members and advisors.
The goal of the ReNU Clinical Survey is to perform a cross-sectional study by collecting and analyzing information on the spectrum of features that individuals with ReNU syndrome experience and how these features change or progress over time. Understanding the spectrum of symptoms and their progression empowers parents and guardians to provide optimal care. This study will contribute valuable data to researchers investigating and developing treatments for this condition. Furthermore, it will enhance clinicians' and genetic counselors' understanding of this novel diagnosis, improving recognition of the characteristic features of ReNU syndrome.
-
To participate in the ReNU Clinical Survey or learn more, please email the Northwell research team at NGHI@northwell.edu. The research team is available Monday-Friday, 9am-5pm ET to answer any questions. You will then receive an electronic consent form; once signed and returned, the survey link will be provided.
If preferred, we will also have a research table at the ReNU Syndrome Conference on July 24th, 2025, and can consent interested families and answer any questions you may have at that time.
The survey will take approximately 45 minutes to complete and will ask questions focused on pregnancy history, genetic testing, medical history (including a brief review of each body system), and family history.
GestaltMatcher: 2D International AI Facial Recognition
-
GestaltMatcher uses advanced Al technology to analyze medical images and identify facial features that may indicate and accelerate the diagnosis of rare genetic disorders.
-
Contact Dr. Annabelle Arlt at annaarlt@uni-bonn.de
or contact Dr. Peter Krawitz at pkrawitz@uni-bonn.de
Rare-X: ReNU Patient Registry
-
Rare-X is one of our registries for collecting data about RNU4-2 / ReNU syndrome and ALL are welcome to participate. Treatment options may require that we have robust data that is continually updated.
-
Register today: https://rare-x.org/RNU4-2
Contact RareXsupport@globalgenes.com for technical issues or questions about the platform.
INDEED Study: Investigating ReNU
-
Drs. Ernest Turro and Mafalda Barbosa at the Icahn School of Medicine at Mount Sinai have established the INDEED research study to investigate ReNU and other newly discovered genetic conditions. Dr. Turro leads one of the research teams that discovered that mutations in RNU4-2 cause ReNU (Greene et al. 2024). His group also discovered that mutations in a closely related gene, RNU2-2, cause a similar neurodevelopmental disorder (Greene et al. 2025). Dr. Barbosa has over 15 years of experience as a clinical geneticist with a focus on diagnosis and medical management of patients with rare neurodevelopmental disorders. The INDEED study offers free research-use DNA sequencing of the RNU4-2 and RNU2-2 genes.
-
If you suspect that a family member might have ReNU and would like to learn more about the INDEED study, please contact Ms. Zafiirah Baurhoo in Dr. Turro's group by emailing zafiirah.baurhoo@mssm.edu. If your family member already has a clinically confirmed genetic diagnosis of ReNU / RNU4-2 or RNU2-2 related disorder and you are interested in participating in the INDEED study, please request a clinical appointment with Dr. Barbosa by emailing MSSMClinicalGenetics@mssm.edu.
GENIDA: ReNU Patient Registry
-
Genetic of Intellectual Disability and Autism Spectrum Disorders
-
Join the GenIDA registry to accelerate knowledge about genetic forms of intellectual disability, autism and epilepsy.
Treatment Priorities: Clinical Endpoints
-
If there was a treatment for your family member with ReNU syndrome, what would you want it to address?
Your voices and perspectives matter! This poll will help guide us towards identifying clinical endpoints for future potential treatments for ReNU.
-
CLICK HERE TO TAKE THE TREATMENT PRIORITY POLL NOW
