Snapshot:
Stephanie Cherqui

Position: Staff scientist in the Salomon lab.

Projects: Investigating cell transplantation and cell-mediated gene therapy in two lines of research focusing on:

• The possibilities for gene therapy with pro-angiogenic genes. "Our plan here is to promote the formation of blood vessels, which are important in ischemic and cardiovascular disease."
  
  
• Transplantation of genetically modified adult stem cells as a potential approach to treating and preventing kidney damage in the disease cystinosis. Cystinosis is a rare and terrible genetic disorder in which the amino acid cystine accumulates in the body's tissues and gradually destroys every organ in the body. Despite medication to control some of the symptoms, individuals with cystinosis are plagued with diabetes, blindness, muscle wasting, and kidney disease and rarely survive beyond the age of 40.

Goal: "I have been deeply affected by meeting cystinosis patients and their families. If I could find a cure for cystinosis, I would be the happiest person in the world."

How Cherqui First Became Interested in Science: When Cherqui was a child, her father, a builder in Paris, took her to construction projects involving scientific laboratories. There, she had the chance to meet researchers and became fascinated with human genetics. "Genetics is really amazing. Just a single mutation of your genome can make you really sick. But genetics can also be a tool for the good if we can find ways harness it."

Background: Undergraduate degree from the University of Paris in the highly selective Human Genetics and Molecular Biology Program. Ph.D. work with investigator Corinne Antignac at Necker Hospital in Paris. There, Cherqui was involved in breakthrough work finding the gene responsible for cystinosis (CTNS), identifying the function of the cystinosis protein, and creating a knock-out mouse model for the disease.

Started at Scripps Research: September 2002, as a research associate. "I came to the Salomon lab with the idea of learning about cell transplantation and gene therapy, then applying those methods to cystinosis. I have been very lucky with my bosses. Dr. Salomon is a great mentor and an amazing person."

Thoughts on Scripps Research: "I love Scripps. The powerful technology speeds research and makes it easy to work here."

Funding: Cherqui recently received a three-year grant from the Cystinosis Research Foundation.

Activities Outside of Work: Spending time with her 16-month-old son, Matteo, especially going to the park and visiting the pool and beach together.

Send comments to: mikaono[at]scripps.edu

Scripps Research Staff Scientist Stephanie Cherqui wants to cure cystinosis.