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Project FIND-OUT Collaborators

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders in infants ≤12 months.

Project FIND-OUT Objectives:

Project FIND-OUT aims to provide whole genome sequencing to 1,000 infants who are ≤12 months of age. The specific research objectives are:

  • Determine the earliest time point when infants with RGNDs can be identified based on symptoms (e.g., 3 months, 6 months, 9 months vs. 12 months of age)
  • Implement screening criteria and determine the diagnostic yield of RGND in these patients (by age range) and how the diagnostic yield varies by patient characteristic
  • Identify which conditions can be diagnosed at each time point
  • Determine the most effective method for disseminating screening criteria by age to healthcare professionals
  • Measure the impact of use of screening criteria on RGND diagnosis and patient outcomes
  • For each age range, develop an algorithm for which patients should receive whole genome sequencing
  • Demonstrate how whole genome sequencing can be provided equitably

Contribute

How Can I Contribute To Project FIND-OUT?

  • We want to ensure that the infants in Project FIND-OUT are representative of the US population in terms of ethnicity and socioeconomic status, so are actively seeking collaborators interested in working with the Project FIND-OUT team to provide outreach to black and brown families and families who have barriers to accessing healthcare.
  • We are looking for experts to participate in our expert panel. The panel will provide critical guidance to the project at pre-specified points during the project (e.g., once data from first 100 patients are available, once we have data on primary endpoint from all 1000 patients, once data collection is complete).
  • We are looking for sponsors willing to help support the study financially.
  • We welcome other collaborators who have a shared interest in increasing access to genomic testing and reducing the time to diagnosis in rare disease.