Current Studies & How to Participate

Families affected by ReNU2 can make a meaningful difference. Below are active studies and registries that specifically involve RNU2-2 — each one advances understanding of this newly recognized disorder.

This page is for informational purposes only and does not constitute medical advice. Always discuss participation decisions with your qualified healthcare provider.

Clinical & Research Studies

INDEED Study — Icahn School of Medicine at Mount Sinai

Led by Drs. Ernest Turro and Mafalda Barbosa — the same team who first identified RNU2-2 as a cause of neurodevelopmental disorder. The INDEED study offers free research-use DNA sequencing of the RNU4-2 and RNU2-2 genes.

How to participate:

For more information and to sign up click this link: INDEED Study

RNU2-2 Research Program — Boston Children's Hospital

Researchers at Boston Children's Hospital are conducting research related to RNU2-2 and spliceosomal RNA disorders, with particular expertise in rare pediatric epilepsy and neurological conditions. The research is being conducted by Dr. Maya Chopra, MBBS, FRACP.

How to participate:

Facial Analysis & AI Phenotyping

These AI-powered platforms analyze facial photographs to help identify patterns linked to rare genetic disorders, including RNU2-2.

Face2Gene

Face2Gene is used by clinicians and genetic counselors worldwide. By analyzing a patient's facial photograph and clinical data, it generates a ranked list of possible genetic syndrome matches — including RNU2-2.

For more information and to sign up click here: face2gene

]3 Important: Face2Gene is for licensed healthcare professionals only — families cannot upload directly. Ask your neurologist, geneticist, or pediatrician to use it on your child's behalf.

What families can do:

  • Ask your doctor to create a free account at face2gene.com and enter your child's information
  • If your doctor is unfamiliar with Face2Gene, share this contact: success@fdna.com — the FDNA team will reach out to them directly

GestaltMatcher — University of Bonn

GestaltMatcher uses AI to analyze medical facial photographs and identify features linked to rare genetic disorders. Families can contact the research team directly. Each RNU2-2 case added helps future undiagnosed families receive faster answers.

How to participate:

FaceBase — University of Calgary

An international 3D facial imaging study open to RNU-related conditions. Participation takes less than 20 minutes and uses video (not flash photography), making it easier for children who may be sensitive to bright lights or cameras.

How to participate:

Patient Data Registry

Rare-X Registry

Rare-X is a global data collection platform open to all individuals with RNU2-2 and related RNU disorders. A robust, continuously updated dataset is critical for designing future clinical trials and treatments.

ReNU2 is strictly an informational website and does not provide medical advice, diagnosis, or treatment. Study contacts and availability may change — please verify details directly with each research team before reaching out.