It’s time to advance research towards diagnosis & treatment options!

Participate in ReNU patient registries and research opportunities.

IMPORTANT: If enrolling a ReNU patient in research, from ANY country, please Create a Clinical Research ID (CRID)! This is crucial to using the research data collected across platforms and research programs. Example for CRID registration: Disease Name: ReNU Syndrome | Gene: RNU4-2 | Variant: n.64_65insT (or your variant)

Once you create a CRID, it’s yours to hold on to! We encourage you to share it with each clinical research study that you enroll your ReNU child in.

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.

    https://genida.unistra.fr/register/

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

FAQs

What is a Registry?

Registries are organized systems to collect and store standardized data about RNU4-2 / ReNU Syndrome individuals, enabling researchers to study treatment options, disease progression, and other factors related to healthcare over time.

Why do I need a CRID - Clinical Research ID?

This is crucial to using the research data collected across platforms and research programs. When you share it with a research study, it will be used to anonymize your ReNU child, so that researchers may learn from the data you share: they associate your child with a clinical research ID instead of getting names or personally identifiable information about them. If you enroll in multiple research studies, the hope is that by cross-referencing your CRID, you may not need to repeatedly answer the same questions you’ve already answered in previous studies. As an organization, we are encouraging lots of research into ReNU so that it can fuel the development of potential treatment options.

How can I opt in to be contacted for research opportunities?

When you register here on our RNU4-2 map, there is a check-box to opt in to be contacted for future research opportunities.

Will there be additional research opportunities at the upcoming ReNU Hope Conference?

Yes, there will be opportunities to learn more about research opportunities at the upcoming ReNU Hope Conference. ReNU Syndrome United does not endorse or sponsor any specific research studies. In regard to research, we serve solely as a conduit to connect families with research opportunities. Participation in any study is voluntary, and individuals should carefully review all consent forms and study details before enrolling. Participation is at the individual's own risk.