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Zuzana Tothova has a weakness for uncharted territory. It has inspired her to pursue an ambitious project at the Ó³»­´«Ã½ of MIT and Harvard where she’s using a slew of novel technologies to better understand a blood disorders called myelodysplastic syndrome (MDS). But this weakness for the unknown runs deep and can even be blamed for how she found herself in the United States in the first place.

Chasing mutations in the coding regions of genes associated with disease is one thing; chasing noncoding or regulatory mutations is another. For a study published last week in the , a team led by Vijay Sankaran, Aoi Wakabayashi, and Jacob Ulirsch of Boston Children’s Hospital, Dana-Farber Cancer Institute, and Ó³»­´«Ã½ used CRISPR genome editing to probe rare mutations — all in noncoding DNA — linked to three red blood cell diseases. Their findings reveal new insights into the intricate dance of transcription factors involved in red blood cell development, and provide a framework for studying the functional changes wrought by mutations in noncoding stretches of the genome.