Cystinosis Ireland and CRN Co-fund Male Infertility Study
We are pleased to announce a collaboration between the Cystinosis Research Network (CRN) and Cystinosis Ireland to fund a male infertility in cystinosis study at the University of California San Francisco (UCSF). The collaboration was made possible, in part, from a private contribution from CRN board members, Anna and Paul Pruitt and from Cystinosis Ireland’s Seedcorn Funding Programme. Dr. Sur, a postdoctoral fellow in Professor Minnie Sarwal’s Laboratory at UCSF, is the Principal Investigator in the “Cellular Resource for Studying Male Infertility in Cystinosis” proposal.Both organizations look forward to this partnership and providing greater insights concerning cystinosis and male infertility.

Study summary:
As yet, in contrast to a few female patients who have given birth, no male cystinosis patient is known to have naturally fathered a child.  However, the biological reasons for the azoospermia observed in patients with cystinosis are not yet fully understood.  This is an important study due to the growing population of cystinosis patients, who were treated with cysteamine are reaching young adulthood.

This project aims to create and characterize human male epididymis and testis cells (the cells involved in male reproduction system) that mimic or model the disruption that occurs in these cells as a result of the cystinosis disease.  These genetically modified cells will allow us to study the cystinosis disease in these male reproduction cells in a test tube so that we can improve our knowledge and understanding of real-life cystinosis-mediated male infertility.

For more details on the study, click here