Lauren Weiss and Erik Ullian report on two studies using carrier-derived iPSC neurons to elucidate cellular phenotypes associated with 16p11.2 CNVs and a BRAF RASopathy mutation.
Stessman aims to use human cell lines engineered to express patient mutations to determine how these genes contribute to disease etiology, particularly during early development of the human brain. These cell lines will also be a useful tool for therapeutic development in the future.
SFARI is pleased to announce that it has awarded 32 grants (19 Pilot Awards and 13 Research Awards) in response to the 2017 Pilot and Research Awards request for applications (RFA).
In this blog post, the SFARI science team provides insight into SFARI’s scientific priorities. A number of experimental design issues to consider when preparing a grant application in response to the 2018 Pilot and Research Awards RFA are also discussed.
Ellis and Martinez-Trujillo will explore the effects of SHANK2 mutations on protein translation and network connectivity in iPSC derived neurons.
The goal of this research project is to better understand the functions of Myt1l during normal embryonic brain development. As part of their genetic approach, Marius Wernig and Thomas Südhof will primarily focus on heterozygous mutant cells since the heterozygote condition is more similar to what is found in individuals with autism.