Derivation of Novel Late Onset Disease-Specific Stem Cell Lines Using Highly Accurate Single Cell Genotyping Technology

Funding Type: 
New Cell Lines
Grant Number: 
ICOC Funds Committed: 
Public Abstract: 

The creation, propagation, and free distribution of novel human embryonic stem cell (hESC) lines are urgently needed in order to bring medical researchers one step closer to successfully treating many of the existing debilitating diseases. Although several federally approved embryonic stem cell lines exist, they are limited in their utility for a variety of reasons, most notably lack of genetic diversity. In order to fill this gap, we propose to derive novel hESC lines from embryos with inherited susceptibility to diseases that are relatively common and debilitating, such as cardiomyopathy, type II diabetes, early onset Alzheimer’s disease, and familial early onset breast cancer. Preimplantation genetic diagnosis (PGD) of embryos during in vitro fertilization (IVF) remains the most effective method for derivation of disease-specific hESC lines, and is the focus of this application.

A major drawback of current PGD methods is their inability to simultaneously detect both aneuploidy (a change in the number of chromosomes) and multiple genes known to cause a disease. Most PGD screens for embryos with abnormal number of chromosomes to improve implantation rates and reduce spontaneous abortions, and in nearly all other cases, PGD only screens for diseases that develop during early childhood. As a result, none of the PGD screens for diseases that develop during adulthood. We will be able to create that opportunity with our {REDACTED} product, which is the only method that can simultaenously measure both disease-linked genes and aneuploidy in a single cell isolated from an embryo.

In collaboration with our key California IVF clinic partners, we plan to first test our PSTM technology with unused embryos, and then apply the technology to screen hundreds to thousands of embryos per year. Given our ability to test for both chromosome abnormalities and genetic disease simultaneously, we will be in a unique position to screen each of these embryos for diseases that are not routinely tested by other PGD methods. With the parents’ consent, embryos that test positive for susceptibility to diseases of interest will be used to derive hESC lines and made available for free distribution to the research community worldwide.

If funded, we will derive hESC lines that will make several critical contributions to the field of stem cell research, ranging from empowering scientists to answer fundamental biological questions to facilitating the development of safe targeted therapeutics.

Statement of Benefit to California: 

Our company is headquartered in {REDACTED}. We provide technical, high-salaried employment for dozens of California residents. With Series A venture backing from {REDACTED} we have outlined an ambitious plan for growth, promising to bring even more jobs to the state. Additionally, we have close strategic partnerships with three California-based IVF clinics: {REDACTED} These IVF clinics, and their patients, will be among the first beneficiaries of our groundbreaking technologies. Most importantly, if this grant is funded, our company will, in collaboration with the {REDACTED} Department of Genetics, help bring novel human embryonic stem cell lines to California scientists. These disease-specific lines will be a superb resource for California researchers working to understand, prevent, and cure debilitating genetic diseases. This resource will help keep California at the forefront of stem cell research worldwide, enriching our local economy and earning further prestige for nonprofit research institutions. Local drug companies will benefit from local resources in nonprofit stem cell research. Finally, California residents could eventually benefit from advances in medicine that result from this important local biological resource.