Julia V Hegert

TL;DR: This work integrated whole-genome sequencing with methylation, expression and copy number profiling, discovering that DIPGs comprise three molecularly distinct subgroups (H3-K27M, silent and MYCN) and uncovering a new recurrent activating mutation affecting the activin receptor gene ACVR1 in 20% of DIPG.

TL;DR: It is found that COVID-19 infection is associated with axon injuries and microvasculopathy in olfactory tissue and the striking axonal pathology in some cases indicates that Olfactory dysfunction in COVID -19 infection may be severe and permanent.

TL;DR: It is suggested that X-linked neurodevelopmental disorders like CASK mutation and Rett syndrome are pathologically neurodegenerative; random X-chromosome inactivation in heterozygous mutant girls, however, results in 50% of cells expressing the functional gene, resulting in a non-progressive pathology, whereas complete loss of the only allele in boys leads to unconstrained degeneration and encephalopathy.

TL;DR: Autopsy was consistent with sarcomatoid carcinoma, also known as giant cell carcinoma of the lung, which identified several tumor markers as well as distant metastasis, hemorrhage, and multi-organ necrosis.

TL;DR: GFAC as mentioned in this paper developed a standard operating procedures (SOP) for six tissue navigators working across institutions to ensure post-mortem tissue is procured correctly and respectfully, which led to an increase in donations, which has led to establishment of tumor cell cultures translating rapidly to clinical development.