We gladly inform that actions that were taken by the Polish CCHS Foundation „Lift the Curse” (First International CCHS Day and action “I sail for Leo”) have contributed to CCHS cure research.
Polish CCHS Foundation partners with CCHS Foundation, which chose two projects to support.
Research of dr Isabella Ceccherini
NEXT GENERATION SEQUENCING (NGS) APPROACH TO DEEPEN INTO PHOX2B MUTATIONS MEDIATED PATHOGENESIS AND TO IDENTIFY DRUGS ABLE TO RESCUE CELLULAR AND MOLECULAR DEFECTS IN CCHS
| “In vitro studies and a serendipitous observation in patients have provided preliminary evidence that the molecular consequences of PHOX2B mutations, particularly polyAla expansions, can be reversed”. |
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Research of dr Douglas Bayliss
GENE EXPRESSION PROFILE OF SPECIFIC RESPIRATORY BRAINSTEM NEURONS SENSITIVE TO CCHS MUTATIONS IN MICE.
| “This work will provide new information regarding the molecular genetics of this vulnerable population of brain cells, and thus new understanding of how those cells perform their specific functions that are critical for breathing and disrupted in CCHS.” |