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Hemophilia B and Charcot-Marie-Tooth Disease Specific Embryonic Stem Cell Lines Created!

Two human embryonic stem cells lines that carry the genes responsible for causing the hereditary diseases, hemophilia B and Charcot-Marie-Tooth disease have been developed by a team of researchers from the University of Michigan for the first time.

This University joins the group of a few other universities which are into developing disease specific human embryonic stem cells lines.

All these research groups intend to develop these disease specific cells lines, to study, understand and come up with treatment techniques for rare genetic diseases.

A stem cell line is nothing but a collection of numerous genetically identical cells created from a single embryo.

Among the two stem cells lines created, one has the gene responsible for causing the inherited disease hemophilia B, a condition where the clotting of blood is affected. The second stem cell line contains the gene responsible for Charcot-Marie-Tooth disease, another inherited neurological disorder, which is characterized by the slow but progressive degeneration of foot, hand and lower leg muscles.

These human embryonic stem cell lines were developed from donated embryos which were found unfit for the purpose of reproduction because they carried diseases. As per the laws of Michigan, such embryos can be used for research purposes instead of discarding them.

In the near future, the embryos donated in this way will be used to create stem cell lines carrying genes that are responsible for causing rare diseases such as Tay-Sachs disease, Huntington’s disease, spinal muscular atrophy, myotonic dystrophy, Rett syndrome etc.

University of Michigan entered into collaboration with a company called Genesis Genetics, which is into pre-implantation genetic diagnosis (PGD) tests.

PGD tests are performed on embryos that are a few days old, to identify the presence of genes responsible for inherited diseases.

According to the agreement, patients can donate the embryos to Consortium of stem cells if tested positive for genetic diseases.

Conventional treatment techniques cannot provide a solution to these rare genetic diseases. Therefore, lets all hope that these stem cell lines enable the researchers to study them and come up with treatment options.

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