This month’s Research Roundtable featured 8p researcher Dr. Jason Sheltzer from the Yale University School of Medicine. Dr. Sheltzer and his group are working on a project aimed at restoring normal chromosome copy number (disomy) in 8p iPS cells

Large chromosomal copy number variants, such as trisomy 21 and 8p duplication/deletion, affect the expression of a large number of genes. A fundamental question is how do these changes in gene expression give rise to the cellular and developmental phenotypes that are characteristic of these syndromes?

Chromosome diseases disrupt many genes at once, but some genes matter more than others. 8p iPSC-derived neurons and brain organoids converge on a candidate driver gene located on chromosome 7: Reelin.

This month we tried something different at the Research Roundtable. Instead of having one or two researchers present their work, we posed several research questions to the group and then opened the floor for discussion.

What happens when preliminary data from two independent model systems line up? Is it case closed, or just the beginning of a careful iterative process to determine which results are real and which results are not, i.e, false positives?

The Project 8p Two Year Research Plan, first published last year, will undergo regular reevaluation and revision as our research projects provide new insights into the disease, as technological advances are made, and as the wants and needs of 8p heroes and their caregivers evolve.