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Genetic testing plays an important role in the management of Bloom’s syndrome. Once a couple has had a child with Bloom’s syndrome, it is possible to diagnose subsequent pregnancies as having or not having the syndrome; but it is also possible to go much further than this. We illustrate this point through the example of Bloom’s syndrome in the Ashkenazi Jewish population. Compared to non-Jewish populations, Bloom’s syndrome is more frequent in Ashkenazi Jews, in which population a unique mutation in the BLM gene explains nearly all cases of Bloom’s syndrome. A simple genetic test is available commercially that will identify persons who carry the Ashkenazi BLM mutation, and information about carrier status can be used in family planning. For example, Dor Yeshorim, a program to eliminate common recessive diseases among Orthodox Jews in New York and Israel, uses the information to prevent Jewish genetic disease through selective marriage. Some Jewish communities use the information with pre-implantation genetic testing of embryos in the in vitro fertilization setting; some use the information in selective termination.

Although the technology exists to identify carriers of disease-causing BLM mutations in all populations, it is expensive and has so far not been used to prevent Bloom’s syndrome. That said, the world is quickly approaching the time when genetic information of this kind will be available to everyone. The Bloom’s Syndrome Association is dedicated to raising public awareness about these issues and options, so that people have the information they need to make informed decisions.

See, also...

Excerpt from Center for Jewish Genetics: Screening & Testing Options...

Pre-Implantation Genetic Diagnosis is a procedure performed in conjunction with In Vitro Fertilization (IVF). In IVF, an egg is fertilized in the laboratory and allowed to grow for a few days. After fertilization, one or more cells can be removed from the embryo before implantation for testing. The genetic material (DNA), which is contained within each cell and provides the instruction for the development of an individual, can then be amplified and analyzed. After PGD is performed, only the embryos without the specific genetic changes/mutations can be re-implanted in the uterus.

BSA Blog

2016 Bianco Family's Fundraiser

Second annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2016 campaign will go to Bloom’s Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2016 Bianco Family's Fundraiser.

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