Activation of the maternal allele at the PWS/AS domain as a potential therapeutic approach (year 2)

Hi Robin, Yes, reactivation of the PWS genes on the maternal chromosome should work for all genetic forms of PWS. In all cases, there is a maternal chromosome (with all the PWS region genes) just sitting there, silent. In deletion, there is just the mom's chromosome - dad's is deleted in that region; in UPD, there are 2 copies of the maternal chromosomes; and in impriting mutation there are 2 chromosomes that behave as if they are both maternal in origin. The ultimate goal of these studies is to get rid of a protein that keeps the PWS genes on the maternal chromosome silent. So, in all cases there are PWS region genes present, which should 'turn on'.