Preimplantation Genetic Diagnosis Can Stop Inherited Disease in a Family
Source Newsroom: Alzforum
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.
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