#CMSC16 – Online Atlas Links Cell Characteristics to Genes for Stem Cell Research

The use of induced pluripotent stem cells to create disease-specific neurons and oligodendrocytes for the study of multiple sclerosis (MS) is hampered by the huge variability of features such cells possess. To get around this problem, researchers from Ohio State University created an atlas of how cell characteristics are linked to their genotype, aiding thousands of researchers worldwide with their studies.

This groundbreaking idea was presented at the Consortium of Multiple Sclerosis Centers (CMSC) 2016 Annual Meeting, gathering MS researchers, clinicians and other interested parties for four days worth of sharing and exchanging new findings. The meeting is June 1-4 at the Gaylord National Resort and Convention Center in National Harbor, Maryland.

In addition to — or rather as a consequence of — the variability in cell features of induced pluripotent stem cells from MS patients, research using such methods produce extensive amounts of data that are difficult to overlook but also interpret, particularly since there is no agreement on biomarkers of neurodegeneration in these in vitro models.

Titled “An Atlas of Phenotype-to-Genotype Relationships of Patient-Derived Neurons and Oligodendrocytes: Implications for White-Matter Disorders,” the innovative scope of the study was a good fit for its session — the “Whitaker Research Track Session II” — presenting the research of nominees for a young investigator award, which honors the memory of the renowned MS researcher Dr. John N. Whitaker, who became an inspiration for people researching MS.

Analyzing data from experiments with induced pluripotent stem cells from 77 previously published studies, the research team attempted to link neuron characteristics with mutations present in neurodevelopmental and neurodegenerative disease affecting white matter.

The approach resulted in 517 new cellular phenotypes being cataloged, linked to 55 different mutations in 25 adult and pediatric neurologic disorders.

Using the information on cellular characteristics and genetic background, the research team created what they referred to as a phenogenetic map, an atlas outlining the relationships between genes and appearance, and allowing for a systematic grouping of cell features.

In the process, the team discovered relationships between genes and cell phenotypes that had not been described previously.

The data was then uploaded to a web platform, iphemap.org, specifically designed to allow scientists, who study neurological diseases like MS with the help of induced pluripotent stem cells, to use the resource to advance their research studies.