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Molecular overlap links tuberous sclerosis, fragile X

Low in protein: Shank2 protein levels (red) are decreased in cerebellar cells from mice lacking TSC1. Brain cells from the cerebellums of mice that model tuberous sclerosis complex (TSC) show dampened protein levels, according to a new study. The affected proteins’ levels are controlled by FMRP, the protein missing in people with fragile X syndrome — a result that…

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Q&A with Brenda Finucane: Building pipelines for genetic tests for autism

Missed opportunity: Few autistic people undergo genetic testing, despite recommendations from experts that they do so. SDI Productions / iStock Brenda Finucane Associate director, Autism and Developmental Medicine Institute at Geisinger When Brenda Finucane began her work as a genetic counselor, she and her colleagues had few DNA testing tools at their disposal. They mainly relied on karyotyping, which…

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