Funded Projects

1. We are working with  Dr Wendy Chung, MD, PhD Chief of Pediatrics at Boston Children’s Hospital as our PI to guide the patient registry and natural history study collection for this mutation. There are currently 18+  patients known around the world carrying this mutation however Dr Chung feels there could quite possibly be hundreds more with a proper diagnosis.  The Chung Lab has created induced pluripotent stem cells of the R578C mutation of MAPK8IP3, corrected iPSCs and IPSCs of 6 other variants of this mutation. Some of these cell lines are readily available at Coriell.
2. At Yale, we are supporting  Dr Shawn Ferguson, PhD Associate Professor of Cell Biology and Neuroscience on his research that will use human neurons derived from iPSCs as a platform for the identification of candidate therapeutic strategies to treat disabilities arising from MAPK8IP3 deficiency. Shawn is engaging in our most concentrated protein characterization studies of the MAPK8IP3 Gene/JIP3 Protein.
3. At the guidance of  Dr Matt Might, PhD,  we are working with The Hugh Kaul Precision Medicine Institute University of Alabama sponsoring zebrafish and c elegan research studies. Dr Camerron Crowder, a leading zebrafish scientist at UAB, is currently guiding our drug screening tests in MAPK8IP3 zebrafish. 
4. We are working closely with  Dr Tim Yu, Attending Physician, Division of Genetics and Genomics, Boston Children’s Hospital and Associate Professor of Pediatrics, Harvard Medical School and his team.  Tim and his colleague Didem Demirbas-cakici are creating brain organoid models of this mutation such as missense mutation variants and other truncating variants.
5. We have sponsored  Dr Swetha Gowrishankar Assistant Professor in the Department of Anatomy and Cell Biology at The College of Medicine at The University of Illinois Chicago and Dr Roger Davis, the H. Arthur Smith Professor and Chair, Program in Molecular Medicine at the University of Massachusetts Medical School, a world-renowned expert in MAP Kinase signaling research. .
6. We are currently working with Dr Stan Crooke and the team at N-Lorem Foundation to create an allele-specific knockdown ASO.
7. Dr Matthew Anderson at The Anderson Lab at Harvard designed 6 lines/variants of the MAPK8IP3 mutation in mice which are currently housed at Charles River Labs
8. We are sponsoring a MAPK8IP3 Mouse Behavioral Study at Mayo with Dr Laura Lambert and, in partnership with Moderna, have identified an LNP that crosses the blood-brain barrier and shows strong cerebral expression in the MAPK8Ip3 mice. Dr Lambert, Dr Ferguson, Dr Crowder and Dr Michael Zimmer shared this research at The 13th Annual Individualizing Medicine Conference at The Mayo Clinic in September 2024.

Are you a research scientist or commercial organization currently working on MAPK8IP3/JIP3 research?   We’d love to hear from you!  Please contact us and tell us about your work.