Work on Tay-Sachs and other Ashkenazi genetic disorders continues – J.

In 1976, Message to the editor Thanks to this post for its coverage of the genetic disease Tay-Sachs, and for regularly promoting your chances of getting tested.

At the time, Tay-Sachs remained a disaster in the Jewish community. Since then, in the triumph of the will of society over genetic destiny, Coordinated batch for early testing virtually eliminated the disease – reduce the number Ashkenazi children born with Tay-Sachs range from 60 per year to 3 to 5 per year.

But while the incidence of Tay-Sachs has declined among Ashkenazi Jews, a group of genetic disorders continues to threaten the community, necessitating genetic screening.

Estee Rose
Estee Rose

“We need to plan and be proactive about it,” said Estee Rose, a genetic counselor with JScreenan Atlanta-based nonprofit that provides testing and education.

In 2008, the US Senate appointed September Thai Sachs Awareness Month, but Tay-Sachs is only one of the genetic diseases in which Ashkenazi Jews are most likely to carry a recessive gene. (The recessive gene, unlike the dominant gene, is expressed only when it is inherited from both parents.)

as For Rose, about 75 percent of those with Ashkenazi Jewish heritage carry a recessive gene for at least one of a number of genetic conditions. Besides Tay-Sachs, the most common diseases include Gaucher disease, cystic fibrosis, familial dysphonia, and Canavan disease. (According to the Jewish Hereditary Association, there are also various genetic diseases More prevalent among Sephardic Jews.) one in 30 Ashkenazi Jews carry the gene for Tay-Sachs, while among the general population, 1 in 300 is a carrier (the number is also high among those of Cajun descent).

While the recessive gene does no harm, a child with Tay-Sachs will likely be born to an Ashkenazi Jewish couple.

“It’s only really a problem if someone who’s carrying a child has the same gene,” explained Mary Norton, MD, professor of medicine and genetics at the University of California, San Francisco.

The reason why Ashkenazi people are more likely to carry the Tay-Sachs gene is intertwined with many disasters in the history of the Jewish people. “Think of the Crusades. Think of the Holocaust. Think of the Spanish Inquisition,” Rose said. “The community shrank, then grew back.”

For genetics, such conditions represent a demographic bottleneck And the Founder’s Effect. In layman’s terms: Many Jews were murdered at different times in history, leaving a smaller pool of genes to replenish the population. Also, Jews in Europe were intermarried, which means that they tend to marry other Jews.

“Mutations become copy and paste over and over again,” Rose said.

Thai sax Discover In the late nineteenth century, and even at that time its spread among Ashkenazi Jews was noted.

The most common form becomes noticeable In infants about 6 months of age. Symptoms include visual impairment and a sudden exaggerated response, then progressing to slowed growth, lethargy, neurological atrophy, seizures by age two, and death by age five. There is no cure for this disease.

A carrier of a genetic disorder may not have a family history of the disease or may have the disease itself. Pregnancy is often the first time many people are tested to see if they are carriers of a group of genetic disorders. Some are not tested at all.

JScreen’s mission is to encourage people not to wait for a pregnancy test.

This is what Rose did and changed her life. While in college, she and her partner got tested to see what genetic disorders they carried. It turned out that they were carriers of cystic fibrosis, a life-threatening disease. If she had had children with her partner at the time, they would have faced some difficult choices.

“We decided to separate and avoid all of these things,” she said.

Today, as a genetic counselor, Rose helps couples consider their options when faced with similar scenarios. She said exams[جسكرين]for 225 diseases and works closely with[أولث هلث كير]Provider and Genetic Consultants.

“I can serve my own community, which is really important to me,” she said. “The Jewish community unfortunately faces many genetic health problems.”

About 75 percent of those with Ashkenazi Jewish heritage carry a recessive gene for at least one of a number of genetic conditions.

Rose said that if a pregnant couple is found to carry the same disease gene, the next step is to test the fetus. If the fetus suffers from this disorder, then the couple must choose whether or not to carry the child to the end of the pregnancy. It’s best to get tested before pregnancy, Rose said: “If there’s a problem, they have more options.”

A couple can explore IVF (where each embryo can be tested before implantation) or donate eggs, or they may decide not to have children or even go their separate ways, as Rose and her partner did then.

Sophia Pesotchinsky prefers to take the test before pregnancy. her daughter Vera, 49 years old, Delayed appearance of Tay SacksIt is a rare form of the disease.

The Pesotchinskys came to the Bay Area from Russia in 1976. Vera later developed problems with motor function which turned out to be the first signs of LOTS. Sophia was never tested for an aircraft carrier, neither in Russia nor here in the United States when she was considering having more children. She said it was a big mistake.

She said, “If people come from a different country, they should be asked, ‘Have you had this test? “

This is especially true for people who come from the former Soviet Union. She noted that “often they did not know they had Jewish roots.”

Sofia said it took more than a decade for Vera to be diagnosed (along the way, Sophia was told that her daughter’s problems, which range from thumbs-up to “headaches,” came from having an overbearing immigrant mother). Vera, who has an MBA from Santa Clara University and a BA from Wellesley College, is currently in a wheelchair and can’t live on her own, but mother and daughter Active in patient advocacy Through the National Tay-Sachs and Associated Diseases Association.

JScreen isn’t the only Jewish organization trying to get people to get screened early.

New York based the role of yeshurim Screening prospective spouses in the Orthodox community by taking tests for more than 50 diseases. According to the latest quarterly report, of more than 9,000 people who used the service, 120 were found to be “genetically incompatible.”

Like JScreen, Dor Yeshorim advises people to get a good test before they get pregnant. “When a match is suggested, it’s time to do a compatibility check. Experienced role of Yeshurim, Rabanim and Shadshanim urges everyone to check compatibility before the couple or parents meet to avoid unnecessary heartache!” the site says.

To this end, the role of Yeshurim is often put to the test in Orthodox schools. Rose said JScreen is working with Hillel and Birthright.

Advances mean that genetic tests previously reserved for Ashkenazi Jews can now be accessed by the general population, reducing the likelihood of children being born with a disease like Tay-Sachs.

The tests are used to cover only 25 or so genetic disorders, but hundreds of them can now be identified.

Rose said it’s important to get tested no matter what race you are. While Ashkenazi Jews have their own set of risks, other ethnic groups have their own. Rose noted that you never know what a test result will bring.

“We all have things we don’t know about our family history,” she said.

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