Browsing: approaches

Years ago, I learned that understanding the brain does not protect you from mental illness. I had a Ph.D. in neuroscience and worked as a patent lawyer specializing in biotechnology and pharmaceuticals. I understood neurotransmitters, stress physiology, sleep, and mood regulation. I also lived with bipolar I disorder

SUSTAINED sleep deprivation disrupts multiple organ systems, requiring targeted clinical interventions to prevent chronic diseases. Clinical evidence indicates that sleep deprivation triggers acute neuroinflammation by activating microglial pathways and elevating circulating levels of interleukin-6 and tumor necrosis factor-alpha. These inflammatory responses increase blood-brain barrier permeability and damage hippocampal cell proliferation, leading to severe cognitive deficits…

Rare and undiagnosed diseases pose diagnostic challenges due to phenotypic and genetic heterogeneity and the limitations of conventional molecular testing. As part of the RareBoost project, we implemented an integrated, stepwise genomic strategy in a cohort of 134 patients from 120 families with previously inconclusive genetic testing. Our strategy combined systematic exome sequencing with subsequent…