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Proof-of-Concept Study Points to Potential Treatment for Rett Syndrome

Scientists from Columbia University have used a new epigenetic editing technology to correct mutations in neurons that cause Rett syndrome, a rare X-linked neurodevelopmental disorder that primarily affects young girls and causes severe mental disability. The proof-of-concept work, reported in this week's Science Translational Medicine, may not only point to a potential treatment for Rett syndrome but also other X-linked diseases. Rett syndrome is caused by loss-of-function mutations affecting the methyl CpG-binding protein 2 (MECP2) gene on the X chromosome. In the study, the investigators used a multiplex epigenome editing approach to reactivate MECP2 from the inactive X chromosome in Rett syndrome-like human embryonic stem cells and derived neurons. The reactivation, they write, improved neuron-like function in vitro with no detected off-target effects. While promising, the approach still needs to be tested in animal models of Rett syndrome to determine the treatment's effect at behavioral levels before advancing into the clinic, the researchers note.

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

Sequencing Analysis Examines Gene Regulatory Networks of Honeybee Soldier, Forager Brains

Researchers in Nature Ecology & Evolution find gene regulatory network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.