Language:

Project FIND-OUT

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders​

Our High-Level Methodology​

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders​

Design

Summarize literature on clinical, developmental, and laboratory findings associated with RGND

Pilot Program

Conduct a pilot with 50 infants, then expand to 100. We will then seek funding to expand to 1,000 infants. Findings will be published.

Expert Panel

Using literature and pilot results, panel to develop consensus position on early WGS for infants < 12 months of age​

Nationwide Program

Submit findings to organizations involved in guideline development

What We Do

Project FIND-OUT Objectives

  • Implement FIND-OUT screening criteria and determine the diagnostic yield by age range and patient characteristic
  • Identify which conditions can be diagnosed at each time point
  • Determine the most effective method for disseminating screening criteria to healthcare professionals
  • Measure the impact of use of screening criteria on  diagnosis rates and patient outcomes
  • For each age range, develop an algorithm for which patients should receive whole genome sequencing
  •  Demonstrate the ability to provide equitable genetic counseling and testing services

We Are Here For You

Criteria For Patient Referral

Any infant 4 – 12 months of age who meet three of the following criteria:

  • Past admission to NICU or
  • Has had one or more unprovoked seizures or
  • Abnormal tone
  • Abnormal movements
  • Feeding issues (including inability to suck, reflux, constipation)
  • Missed developmental milestones (missed milestones in 2 or more domains)
  • Have other characteristics such as congenital malformation, atypical growth, or referral to a specialist

Exclusion criteria:

  • Previous whole genome sequencing

Project FIND-OUT Can Help You Understand Rare Disease

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders​

Happy To Help People

Our Projects

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders​

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis
The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis
The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis

Institutes That Help Us

Core Collaborators

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders​