INDEED Study
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.
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Get in touch via the contact form: https://indeedstudy.org/
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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.
By working closely with families, family foundations, collaborating clinicians (including clinical geneticists and neurologists), and other researchers, the INDEED study aims to improve our understanding of RNUopathies.
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Participating might help you or your loved one find answers regarding your or their disease. You or your loved one will contribute to research that may improve diagnosis and treatment for others with rare diseases.
The Mount Sinai team discovered ReNU Syndrome and both dominant and recessive forms of ReNU2 Syndrome, so they have a strong focus on these particular disorders and related RNUopathies.
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.
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If you suspect a family member might have ReNU, you may be eligible for FREE testing.
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 via MSSMClinicalGenetics@mssm.edu.
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The INDEED study offers free research-use DNA sequencing of the RNU4-2 and RNU2-2 genes.
All study-related tests and procedures are provided at no cost.
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+1 212 241 4709
Ashley Daniels | Clinical Administrative Coordinator | MSSMclinicalgenetics@mssm.edu
Zafiirah Baurhoo | Associate Researcher in Genetics and Genomic Sciences | zafiirah.baurhoo@mssm.edu
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https://indeedstudy.org/faq.html
Is this institution part of the ReNU Syndrome United Center of Excellence Network?
Yes
