Results about: microcephaly
The recognition of many types of DNA lesions activates the cellular DNA damage response (DDR). The DDR orchestrates the appropriate cellular programs to maintain genome integrity after genotoxic stress.
The video series Meet Our Scientists presents Travis Stracker, head of the Genomic Instability and Cancer lab at IRB Barcelona.
The video “Maintaining stability of the genome” highlights the research underway to unravel how cells prevent genomic instability.
The Meet Our Scientists video series introduces Jens Lüders, who studies microtubules—mini-filaments involved in multiple cell processes. The alteration of these structures is associated with diseases such as cancer and Alzheimer’s and with developmental defects.
In the video “Curiosity as a fuel”, Lüders recalls that transcendental discoveries arise from basic research and that such science is driven exclusively by curiosity, without specifically pursuing its applicability or transfer.
Researchers at IRB Barcelona study CEP63, a gene that is mutated in Seckel Syndrome, a rare disease that causes microcephaly and growth defects.
The protein CEP63 is crucial for the correct division of brain stem cells. In its absence, mice reproduce Seckel Syndrome.
The scientists rescued the microcephaly during mouse embryonic development by removing a protein that caused the loss of stem cells.
Also, CEP63-depleted male mice are infertile. The relationship between this protein and sperm production is revealed for the first time.