The first tangible signs of progress are here! Five blood samples collected from the Washington, D.C. conference have been successfully reprogrammed as undifferentiated cells, and are on their way to becoming brain cells.
What does that mean, exactly? These brain cells will carry the PPP2R5D variation – Jordan's Syndrome – and will allow the researchers to study the variation and its impact on the brain. This is the very first step in that process. Blood samples were collected from the Washington D.C. conference attendees from each of the children diagnosed with Jordan's Syndrome as well as their parents.
"A subset of the [blood] samples were sent to the New York Stem Cell Foundation (NYSCF) to be transformed into essentially little brains in a dish."
Some of the samples were sent to Rutgers for processing and to be studied as part of the PPP2R5D research. A subset of the samples were sent to the New York Stem Cell Foundation (NYSCF) to be transformed into essentially little brains in a dish.
Some info about stem cells: https://nyscf.org/stem-cell-basics/what-are-stem-cells/
The samples received at NYSCF have been successfully reprogrammed and are on their way to be converted to brain cells. We expect full conversion and readiness to distribute to the research team by early next year.
For reference, this would be the first 3 steps shown in the research diagram on the last page of the PPP2R5D study prospectus. This is cutting edge technology that we are fortunate to be taking part in. Science in this field has come a long way in the past 5 years making these steps in the research possible.
Additional skin samples will be collected from families to create additional neurons at UC-Davis.