While some pediatric brain cancers have known genetic causes, many do not. Three-dimensional profiling revealed new disease mechanisms and drug targets.
In a journey that spanned the genomes of more than 150,000 Icelanders, archival samples, and a fetus in utero, researchers not only identified genetic variants missing from the population, but also proved that these missing mutations cause three rare genetic diseases.
Recurrent high fevers in children are always worrying, but by studying patient cells, immunologist Lori Broderick hopes to reveal the underlying causes of these disorders.
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