Diamond-Blackfan anemia is a rare disease characterized by a defect in the production of red blood cells. In a plenary paper published in the journal Blood on May 26th, scientists highlighted a new form of the disease linked to the loss of function of the HEATR3 gene , the product of which chaperones the synthesis and assembly of a ribosomal protein.
As a result of the joint work of several genetic services within the RiboEurope consortium, funded EJP RD, variants of a new gene, HEATR3, were detected in six patients in the Netherlands, in Turkey and France.
Read the article here: https://ashpublications.org/blood/article/139/21/3111/484180/HEATR3-variants-impair-nuclear-import-of-uL18-RPL5