Preimplantation Genetic Diagnosis Can Stop Inherited Disease in a Family

Released: 7-Jul-2014 8:00 AM EDT
Source Newsroom: Alzforum
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Newswise — Increasingly, families who carry genes for autosomal-dominant neurological diseases such as Huntington’s disease or early onset Alzheimer’s are turning to preimplantation genetic diagnosis (PGD) to enable them to have children unaffected by the disease. Normally, every child of an affected parent has a 50 percent chance of inheriting the pathogenic gene, which guarantees he or she will die in mid-late life from a heartbreaking degenerative brain disease. With PGD, the parents undergo in vitro fertilization and doctors test the resulting embryos so they can implant only those without the harmful gene into the mother’s uterus. Pioneered in 1990, PGD has now been used by thousands of couples worldwide, primarily to prevent diseases that strike early in life, such as cystic fibrosis and spinal muscular atrophy.

PGD for adult-onset neurological disease remains rare, with only a few hundred Huntington’s families and a handful of families with other neurodegenerative disorders using it to date. Primarily this is because few families know about this option, experts say. Most neurologists and primary care doctors do not discuss it with patients. Also, many young, so far healthy, adult children of an affected parent are unaware that they can get the procedure without having to find out whether they carry the disease gene themselves. Once families learn about PGD, they express great interest. The procedure has drawbacks as well. It is expensive and not covered by insurance in many states, and in vitro fertilization comes with stress and discomforts. In addition, some people have ethical concerns about using only some embryos from the IVF procedure. PGD is not regulated in the United States, and European rules vary widely. But PGD offers what no drug comes close to: eliminating early onset Alzheimer’s disease from a given family line for good.

A two-part Alzforum story reports the facts around PDG use for neurologic diseases (Part 1), and describes issues families confront when deciding whether PGD is right for them (Part 2).

About Alzforum:

Founded in 1996, Alzforum is a dynamic, Web-based scientific community dedicated to understanding Alzheimer's disease and related disorders. Access to the website is free to all. Our editorial priorities are as diverse as the needs of the research community. The website reports on the latest scientific findings from basic research to clinical trials, creates and maintains public databases of essential research data and reagents, and produces discussion forums to promote debate, speed the dissemination of new ideas, and break down barriers across the numerous disciplines that can contribute to the global effort to cure Alzheimer's disease. The Alzforum team of professional science writers and editors, information technology experts, Web developers, and producers all work closely with our distinguished Advisory Board to ensure a high quality of information and services. We very much welcome our readers' participation in all aspects of the website.

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