Table 3.

Recommendations for future research to the NIH. Eleven groups discussed and finalized a plan presented to the NIH in the spring of 2020 for the suggested focus of future research funding opportunities related to both childhood development and adult medical needs of persons with DS. These are the major points raised by the more than 50 experts involved in the process.

Recommendations to the NIH Spring 2020

Define clinical and genetic phenotypes across life course

Expand genetic and epigenetic profiling beyond Chr21

Gather more unbiased -Omics data

Develop and support better DS models (cells, rodents, non-human primate)

Increase interdisciplinary/translational collaborations

Expand support for drug and devise RCT’s across lifespan

Increase life-style studies and interventions including physical fitness, health, and behavior

Develop and disseminate methodology for cognitive/ behavior outcome measures for large, multi-site trials

Expand clinical trial data sharing

Expand support for centralized biorepositories and a single network for DS data across the life span

Support training in clinical research/treatment for DS

Expand inclusion of individuals with DS who have been under-represented and excluded from clinical studies