New papers!
- Sameer Bajikar
- Jan 7
- 1 min read
We've published several recent papers studying the role of MECP2 and how changes in MECP2 dosage affect neurobiology and patient health!
1) We deleted Mecp2 in adult mice and performed detailed time series RNA-sequencing, chromatin, and behavioral studies to uncover the sequence of events that occur when MeCP2 function is disrupted. Importantly, we uncovered molecular signatures that are disrupted before any behavioral deficits were observed, which leads us to important genes to study further that could be involved in driving Rett syndrome.
2) In collaboration with Davut Pehlivan, Jesse Bengtsson, and Claudia Carvalho, we characterized the genomic, molecular, and clinical heterogeneities of the largest MECP2 duplication syndrome cohort to date. These differences between groups of individuals afflicted with MECP2 duplication syndrome are important to quantify and categorize as we prepare for potential clinical trials.
3) In line with study #2, we assessed the response of patient-derived neurons from MECP2 duplication syndrome individuals to a potential clinical treatment - antisense oligonucleotides (ASOs). We found that ASOs provide a benefit to cultured MECP2 duplication syndrome neurons, providing further hope that ASOs could provide therapeutic benefit in patients!
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