Goal 2: Reduce Human Disease

Blood specific diseases due to defects in ubiquitous pathways

Why are some blood diseases called by genetic mutations in ubiquitous pathways. Diamond Blackfan anemia is due to a mutation in ribosomal proteins.

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Compelling Question (CQ)

Details on the impact of addressing this CQ or CC

A number of blood diseases are due to signaling defects in ubiquitous pathways. Why would a ribosomal protein mutation lead to a red blood cell specific disorder. Certain anemias or myelodysplastic syndromes are due to mutations in chromatic factors. The chromatin factor defects can lead to clonal hematopoiesis.

Feasibility and challenges of addressing this CQ or CC

A large scale centralized effort could select projects on blood specific diseases due to defects in ubiquitous pathways. A correlation of gene expression, translation, or transcription could lead to a better understanding of responses of blood cells to the stress of defects in common pathways.

Name of idea submitter and other team members who worked on this idea Leonard Zon

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Idea No. 618