INDEED Study
INDEED stands for Investigation of Newly Discovered Etiologies of Exceptional Disorders ("etiology" means cause). Families join a community working with doctors and researchers to improve diagnosis, develop care guidelines, understand the biology, and prepare for possible clinical trials.
-
Fill in the contact form at indeedstudy.org. The study team will follow up with next steps.
-
The INDEED Study looks for genetic causes of rare and newly discovered conditions, especially those standard medical testing can miss. Dr. Ernest Turro, PhD, and Dr. Mafalda Barbosa, MD, PhD, lead it at the Icahn School of Medicine at Mount Sinai. The Mount Sinai team focuses heavily on ReNU2 and related RNU conditions.
-
Icahn School of Medicine at Mount Sinai, New York, NY. The study is linked to Mount Sinai's RNUopathies Program.
-
Taking part may help your family find answers about your loved one's condition. It also adds to research that may improve diagnosis and treatment for others with rare conditions.
-
Families affected by rare and newly discovered genetic conditions, including dominant and recessive ReNU2. Use the contact form to ask whether your family is eligible.
If you think a family member might have ReNU2 but has not been diagnosed, you may be eligible for free research DNA testing. If your family member already has a confirmed RNU2-2 diagnosis and you'd like to join, you can request a clinical appointment with Dr. Barbosa by emailing MSSMClinicalGenetics@mssm.edu.
-
There is no cost. The study offers free research DNA sequencing of the RNU2-2 and RNU4-2 genes, and all study-related tests and procedures are free.
-
Use the contact form at indeedstudy.org.
-
How is my privacy protected? Your personal information is replaced with an ID number. Data and samples are kept on a secure Mount Sinai server with limited access.
Can joining affect my health insurance or job? No. In the United States, a federal law called GINA makes it illegal for health insurers and employers to discriminate based on genetic information.
Can I leave the study? Yes. Taking part is voluntary, and you can leave at any time without it affecting your medical care.
More answers: INDEED Study FAQ
