Current RNU2-2 Research Studies

The INDEED study offers free research-use DNA sequencing of the RNU4-2 and RNU2-2 genes. The INDEED Study is part of an effort to better understand the genetic causes of rare and newly discovered diseases. We are committed to helping individuals & families find answers, contribute to groundbreaking research, and improve the future of rare disease diagnosis and care. By participating, you become part of a community working together to provide hope, clarity and progress to those affected by rare conditions. The INDEED Study has been approved by the Institutional Review Board at the Icahn School of Medicine at Mount Sinai.

Principal Investigator: Dr. Ernest Turro, PhD
Co-Principal Investigator: Dr. Mafalda Barbosa, MD, PhD
Collaborator: Dr. Kathleen Freson, PhD

The purpose of the research study is to understand the genetic causes of rare and newly discovered diseases, especially those that current medical testing may miss. Our team discovered ReNU Syndrome and both dominant and recessive forms of ReNU2 Syndrome, so we have a strong focus on these particular disorders. By working closely with families, clinical geneticists, and researchers, we aim to improve our understanding of these conditions. We hope that your participation not only brings you closer to answers about your family member's condition, but also helps others facing a similar journey.