Three-Dimensional Model for Identifying Fragile X Treatments

With a $90,000 grant from FRAXA Research Foundation awarded in 2018, Dr. Peng Jin and Dr. Juhnee Kang at Emory University will develop and analyze Fragile X brain organoids to understand the disorder and identify treatment targets.

Peng Jin Team at Emory University
$90,000 Grant
Peng Jin, PhD
Principal Investigator
Yunhee Kang, PhD
FRAXA Postdoctoral Fellow
Zhexing Wen, PhD
Co-Principal Investigator
Emory University School of Medicine
2018 FRAXA Research Grant
$90,000 over 2 Years

by Peng Jin

One of the most exciting recent advancements in stem cell research has been the development of a new model that bridges the gap between mice and humans. Chosen as 2017 Method of the Year by Nature, organoids are tiny, self-organized, three-dimensional tissue cultures grown from stem cells. They can be crafted to model much of the complexity of any organ — even the brain. This new technique affords the opportunity to evaluate potential drug treatments in a model that more closely mimics the human brain than the mouse brain.

Research in 3-D

Smaller than a pinhead: A human Fragile X brain organoid on Day 35. Different colors stain different proteins, revealing each cell’s identity (Green: TUJ1; Red: SOX2; Blue: DAPI)
Photo credit: Zhexing Wen

Fragile X brain organoid on Day 56 (Green: TUJ1; Red: SOX2; Blue: DAPI)
Photo credit: Zhexing Wen

Using stem cells derived from adult blood or skin cells that have been reprogrammed back into an embryonic-like state, we have established these three-dimensional Fragile X tissue cultures in our lab at Emory University. These cells can be developed into any type of human cell, including neurons. They are then formed into three-dimensional structures, much smaller than a pinhead, that include not only synapses connecting neighboring neurons, but also larger circuits of cells. Since all thought, learning, and consciousness happens at the circuit level in the brain, this is a big step forward from studying cells in a flat dish.

This new technology could potentially revolutionize our way of studying human diseases. These models will allow for sophisticated analyses to understand normal human brain development and the differences when Fragile X syndrome is present.

With this grant from FRAXA, we will characterize this new model in detail and identify potential human-specific treatment targets. Armed with these new models, scientists will have another powerful tool to test potential treatments for people with Fragile X syndrome and shorten the time needed to bring such treatments to market.

Explore Current Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.