MAST Genes Research Foundation
Connecting Families
To improve the time to diagnosis
Fueling Research
Into microtubule-associated serine/threonine kinase (MAST) genetic mutations
Improving Quality of Life
By developing therapies to support affected patients and families
Empowering Advocacy
So those with time, funds, and abilities can easily apply their gifts to achieve MAST Genes outcomes
The MAST Family of Genes
The MAST (Microtubule-Associated Serine/Threonine) kinases are large enzymes that are upstream of the PI3K signaling pathway that is a target for cancer and epilepsy therapies.
Mutations in these genes have been associated with developmental disabilities, seizures, changes in brain structure, and other issues.
Research Partnership!
We are proud to announce that we have joined the JumpStart program with the Orphan Disease Center. The Orphan Disease center, a center within the Perelman School of Medicine at the University of Pennsylvania, works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for rare diseases.
As part of this program, our first two research goals are:
- Raise $100,000 for potential research grants
- Identify 250 patients for potential future research
Latest News
New Research Partnership!
Research Partnership! We are proud to announce that we have joined the JumpStart program with the Orphan Disease Center. The Orphan Disease center, a center within the Perelman School of Medicine at the University of Pennsylvania, works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for […]
New Patient List in REDCap
New Patient List Let’s get counting! Our goal is to connect families with each other and to fuel research. To get started, we need to know how many of us there are. Do you want to connect with other families and be counted? Having a critical mass of potential patients is key to attracting research […]
Once Upon a Gene Podcast Episode with Dr. Aldinger
Once Upon a Gene Podcast – Episode 188 Dr. Kim Aldinger is a Seattle Children’s scientist that studies how genes influence brain development and how those processes malfunction to cause neurodevelopmental disorders. She’s also a mom to rare twins, Chloe and Grayson. EPISODE HIGHLIGHTS Tell us about your twins, Chloe and Grayson. They are seven […]
Rare Mamas Podcast Episode with Dr. Aldinger
Rare Mamas Rising Podcast – Episode 26 EPISODE HIGHLIGHTS Dr. Aldinger’s path to becoming a brain researcher The work Dr. Aldinger does as a Professor of Genetic Medicine and as a Principal Investigator Grayson’s diagnostic journey and MAST4 diagnosis How Dr. Aldinger co-founded the MAST Genes Research Foundation and the work she’s doing on MAST […]