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Source: Detroit News  By: Kim Kozlowski

The genetic mutation responsible for a blood clotting disorder known as hemophilia B is among two embryonic stem cell lines created by the University of Michigan and believed to be the first in the world to carry the disease, officials announced Thursday.

The two stem cell lines are among six new lines created by U-M and added to the national registry, bringing the total number of lines the university has created to eight.

The lines are available for federally funded research by scientists across the country to study the origin and potential treatments for diseases such as Huntington’s disease, a fatal brain disorder, and a heart condition known as hypertrophic cardiomyopathy, which causes sudden death in athletes and others.

“Our last three years of work have really begun to pay off, paving the way for scientists worldwide to make novel discoveries that will benefit human health in the near future,” says Gary Smith, Ph.D., who derived the lines and also is co-director of the U-M Consortium for Stem Cell Therapies, part of the A. Alfred Taubman Medical Research Institute.

The announcement comes nearly four years after Michigan voters approved a constitutional amendment in 2008 that allows scientists to derive embryonic stem cell lines using surplus embryos from fertility clinics or embryos with genetic abnormalities that are not suitable for implantation.

U-M’s embryonic stem cell lines were derived from 30 cells removed from a donated five-day-old embryo. The embryos were donated by couples who created them through in-vitro fertilization but tested positive for a genetic disorder. The embryos therefore were not implanted and otherwise would have been discarded.

Some of the donated embryos came from couples having fertility treatment at U-M’s Center for Reproductive Medicine, and some came from Oregon Health Science University in Portland, Ore.

Some of the embryos were never frozen, which could mean that the stem cells will have unique characteristics when compared to stem cell lines derived from embryos that were once frozen.

Each line is the culmination of years of preparation and cooperation between U-M and Genesis Genetics, a Detroit-based genetic diagnostic company. It is a leading provider of pre-implantation genetic diagnosis (PGD) testing — which tests embryos carrying genetic mutations responsible for serious inherited diseases. Genesis Genetics performs nearly 7,500 PGD tests annually for couples around the globe.

Through collaboration between Smith and Mark Hughes, founder of Genesis Genetics, patients with embryos that test positive for a genetic disease now have the option of donating those embryos to U-M if they have decided not to use them for reproductive purposes and the embryos would otherwise be discarded.

“These are very precious cells,” Hughes said, “and it would be unconscionable not to take advantage of such an opportunity for medical science and the cure of disease.”

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