Scripps Research receives CIRM grant for new research in stem cell biology and disease origins

The grants, part of $14.4 million to the San Diego region, enable exploration of stem cells' potential in biology and medicine

Stem cells have huge potential in medicine because they have the ability to change or differentiate into many different cell types (such as nerve cells, muscle cells, and skin cells)-potentially providing a source of cells to replace those that have been permanently lost by a patient. Stem cells are also relevant to studies in basic biology, helping researchers understand the fundamental processes that shape the formation of one cell type versus another.

In her research project, Baldwin and her colleagues will focus on establishing methods to identify potentially cancer-causing or other detrimental mutations in "induced pluripotent stem cells" (stem cells created from other cell types). Using cutting-edge whole genome sequencing methods, the laboratory will examine the source and scope of such mutations.

"Results of these studies will establish the relative safety of current methods to produce patient-matched reprogrammed cells and help to improve methods to speed the translation of these advances into therapies," Baldwin said.

In his project, Gottesfeld and his collaborator Scripps Research Professor Jeanne Loring will use induced pluripotent stem cells to better understand a group of genetic diseases including Huntington's disease, spinocerebella ataxias (a type of movement disorder), Myotonic Dystropy (a form of muscular dystrophy), Friedreich's ataxia, and Fragile X syndrome. These inherited conditions are known as "triplet repeat" diseases because they are caused by abnormally repeated sequences of three nucleotides in an individual's genetic code. Specifically, Gottesfeld and his colleagues will explore the molecular basis of the expansion/instability of triplet repeats that they have observed in stem cells from Friedreich's ataxia patients.

"A fuller understanding of how repeats expand may lead to new drugs to treat these diseases," noted Gottesfeld.

The grants to Scripps Research are part of the most recent round of CIRM funding, which included $37.7 million for Basic Biology Awards ($14.4 million of which was awarded to San Diego institutions), supporting research that leads to new insights in stem cell biology and disease origins.