Genetic Research in Italy

There are numerous Kabuki studies, worldwide, that need your donations!  The Merla group, based in Italy, is one such project.

"Despite compelling genetic evidences, still unknown is the molecular mechanism(s) involving MLL2 and KDM6A that leads to the Kabuki syndrome onset. Given their fundamental biological role in the control of gene transcription, the lack of functional MLL2 and KDM6A proteins is expected to have tremendous influences on global gene expression impairing the proper activation of specific genesi in many organs and tissues, resulting in the onset and development of Kabuki syndrome.Therefore, improving our knowledge of the molecular bases of this syndrome is mandatory to establish genotype−phenotype correlations, to identify potential targets for therapy and improve the clinical management of patients. To give answer to these yet unsolved questions, in our group we are carrying out several research projects."

Read more about their research by opening the attachment.  Scroll right to the bottom for information of where to send your donation.

Support KSN -- Donate now

User login