Preimplantation genetic diagnosis

A major development in genetics and reproductive technology that has increasing applications to the dystonia community is a process calledpreimplantation genetic diagnosis (PGD).

PGD is a method ofin vitro fertilization in which couples can dramatically reduce the possibility of a child inheriting a potentially disease-causing genetic mutation. Several of a woman's eggs are fertilized outside her body and those conceptions that test negative for the disease mutation are re-implanted into her uterus.

PGD is feasible for forms of dystonia that are associated with a single gene mutation such as DYT1 dystonia.

For more information, consult a genetic counselor. Visit the website of the National Society of Genetic Counselors to access a searchable directory:http://www.nsgc.org/

In the video below, grandmothers Karen Ross, Barbara Kessler, and Rosalie Lewis share how their families have benefited from PGD and the DMRF-funded research that has made this technique relevant to dystonia.




To view additional videos about the work of the DMRF, visit our YouTube channel at:http://www.youtube.com/facesofdystonia



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