INDEED

The INDEED Study is an effort to improve our understanding of the genetic causes of rare and newly discovered diseases. By participating, you will join a community of families affected by rare conditions who are collaborating with clinicians and researchers to improve diagnosis, develop clinical guidelines, expand biological understanding, and pave the way towards potential clinical trials in the future. The INDEED Study is 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
Collaborators: Dr. Kathleen Freson, PhD & Dr. Tamas Kozicz, MD, 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, family foundations, collaborating clinicians (including clinical geneticists and neurologists), and other 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.