Published June 2024

We are thrilled to share that this summer, we’ll be able to provide researchers with patient-derived iPS cell lines to accelerate our understanding of Myhre syndrome.

Induced pluripotent stem (iPS) cells are created by reprogramming the blood taken from a patient. This process allows scientists to "turn back the clock" and grow these cells into any type of cell in the body, such as heart, lung, skin, or even brain cells. They allow researchers to study how Myhre syndrome affects different organs without needing to collect cells from patients through invasive procedures.

Here’s the process:

1. Creating iPS Cells: Cells from the blood of Myhre patients are reprogrammed into iPS cells in the lab.

2. Differentiation: These iPS cells can then be developed into specific types of cells that researchers need to study.

3. Characterization: Researchers can measure how these cells behave and check if they function properly.

4. Therapy Screening: Finally, researchers can test new therapies on these cells to see if they can correct the cell function.

We currently have two Myhre cell lines (Ile500Val and Arg496Cys) being developed in collaboration with iXCells Biotechnologies, and they will be available for researchers by August.

If you are an academic or clinician interested in using these cells for research, please get in touch with kwears@myhresyndrome.org and submit your research proposal, including your rationale and research plan.

Let’s accelerate the path to understanding and treating Myhre syndrome together!