Jeff D’Angelo shares his personal journey as a father and advocate for families affected by an alteration of the chromosome alignment-maintaining phosphoprotein 1 gene (CHAMP1). RMF’s Bernie Siegel supports Jeff in his mission to increase scientific and public awareness, funding and support for this rare and minimally understood diagnosis. Jeff and his wife founded the CHAMP1 Foundation in 2018, following the diagnosis of their son Jeff Jr (“JJ”).
Website: https://champ1foundation.org/just-diagnosed/
1:25 JJ’s story
2:47 Symptoms of CHAMP1
3:52 Rarity and impact of diagnosis
5:07 Recognizing genetic correlations
6:52 Research for a cure
8:02 Creation of CHAMP1 Foundation
10:17 Using iPSCs to develop stem cell lines
11:43 Identifying funding for research
14:01 Advocacy, support and hope for the future
17:07 Exploring options for further research
