The discovery of gene variants in cases of hereditary spastic dysplasia could provide a diagnosis to affected families where no genetic cause could be found before.
Scientists discuss their latest findings on immune cell dynamics, neurodegenerative disease risk factors, and rare cell types obtained from bulk and single cell RNA sequencing experiments.
With few resources and hesitant investors, basic scientists must rely on clinicians, patient advocates, and their own keen eye for biological connections.
An interesting but preliminary biomarker study’s reception illustrates the challenges of conducting and communicating nuanced research in the era of social media.