Rare Disease Day 2023
In a little over a year since we created the foundation, we have gathered a scientific team, raised $350,000, developed invaluable research tools in collaboration with our academic partners, funded pivotal research projects, and hosted the first-ever KCNH1 conference. Our foundation has funded the design, manufacture, and screening of a batch of antisense oligonucleotides (a type of genetic therapy), as well as a repurposed drug screen (which identifies existing, approved medications that could be repurposed to help correct the potassium-channel overactivity caused by KCNH1 mutations). Both of these projects have yielded promising hits, but this next phase of research, validation of the hits, costs an additional $75,000. Please watch the video and donate today, YOU can make a difference and help make the KCNH1 families' hopes a reality!