South Florida: Jewish genetic disease free screening, Feb. 21

The South Florida Jewish Genetic Diseases Education Fair, with free carrier screening is set for Sunday, February 21.

It will run from 10am-2pm, at Temple Beth El, in Boca Raton.

The screening test is free for the first 100 participants who must pre-register. The test is normally $1,500.

It requires a simple blood test administered by West Boca Medical Center’s professional staff. Pre-registration is required for the 100 free limited spaces.

Click here to start the registration process. No cancellations within 48 hours or a $50 fee will be charged. For test questions, call Debbie Wasserman, (786) 897-9587.

Students, engaged couples, and newlyweds of Ashkenazi Jewish ancestry, ages 18-44, are invited for an educational program on children's genetic conditions sponsored by the Victor Center for Jewish Genetic Diseases and the Mathew Forbes Romer Foundation.

In the Ashkenazi Jewish population (those of Eastern European descent), one in five individuals has been found to be a carrier of one of the several genetic conditions including Tay-Sachs, Bloom Syndrome, Canavan, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia, Gaucher, Mucolipidosis IV and Neimann-Pick.

Carriers are healthy individuals but are at risk of having children with these diseases and passing the risk on to future generations.

For more information, click the Romer Foundation link above.

The event is sponsored by the Mathew Forbes Romer Foundation and the Victor Center for Jewish Genetic Diseases at the University of Miami Miller School of Medicine. Additional sponsors include Judy Levis Markhoff, Adolph & Rose Levis Foundation, West Boca Medical Center, Palm Beach Board of Rabbis, and Temple Beth El of Boca Raton.

UK: London Jewish genealogy conference, Oct. 25

Will you be in London or elsewhere in the UK in late October? If so, the Jewish Genealogical Society of Great Britain's 16th London Conference is set for Sunday, October 25.

Only 19 days to go, for this full-day conference. It runs from 10am-4.30pm, at 33 Seymour Place, W1, and includes a light buffet Lunch with the Experts and two refreshment breaks.

The event sells out every year, so register quickly; the link has the conference newsletter and registration form.

For speaker bios and program abstracts, click on the newsletter link. The speakers are:

-Dr Ruth Levitt: Jews in the Netherlands: Researching the Wiener Library's Dutch Collection.

-Dr Carol Reeves: Tracing your Ancestors through Medical Records.

-Prof. Tony Kushner: Anglo-Jewry since 1066: Place. Locality and Memory.

-Elaine Collins: Findmypast.com's director will demonstrate how to get the most from this website including major online databses, 1911 census and outbound passenger lists.

Make sure you have a seat and avoid the waiting list! Register today.

The cost: Register by Friday, October 9, for £30; After that date, £35. There is a vegetarian lunch option (see registration form for details).

Genealogy tracks rare disease

Genealogy Insider posted a fascinating piece on how a neurologist used genealogical resources to track a rare genetic disease found in just five families globally.

Pallido-Ponto-Nigral-Degeneration (PPND) strikes its middle-aged victims with symptoms similar to Parkinson's and Alzheimer's; they usually die within eight years.

The discoverer, Dr. Zbigniew K. Wszolek was a board-certified neurologist in Poland before he came to the US, and was repeating his residency in Omaha, Nebraska for his American credentials.

Sarah Bott, born in 1854 in Iowa, seems to be the common ancestor.

The story was in Montana's Great Falls Tribune:

Though the nerve damage caused by the faulty gene is similar to that of Alzheimer's, a disease affecting millions of Americans, there are only five families in the world burdened with the similar but rare affliction that Sarah Bott's family inherited. The American family is by far the largest.

The other four families — one French, two Japanese and one Irish-American family discovered just last year — have no genetic link to each other or to the American family.

In the United States, Dr. Zbigniew K. Wszolek has traced this unfortunate legacy back to 1854, when Bott, an Iowa farm girl, was born.

Now, eight generations removed, the affected family lives in 11 states —Washington, Idaho, Montana, Arizona, Iowa, Illinois, Pennsylvania, New York, Florida, Kansas and Missouri.

Wszolek, a neurologist, traced the family back to the 1730s in colonial Virginia and hoped he'd trace it back to Europe.

"But I suddenly realized that Sarah Bott's parents both died in old age. All fourgrandparents all lived long lives," Wszolek said.

The doctor knew the disorder was autosomal dominant, meaning that one parent of the affected individual must have been the carrier, and if they had lived long enough, would have died from it. Symptoms appear around age 43.

Wszolek investigated Sarah's husband, Samuel Newell, who remarried after she died and had a second family. Samuel, his parents and his children all lived long lives, which meant that the genetic glitch had occurred with Sarah. She died in surgery at age 30 and did not live long enough to see the symptoms, although four of her five children were crippled in middle age and died a few years later.

In 1987, a distant relative of the Montana family appeared in Wszolek's Nebraska office.

Diagnosed with Parkinson's, the medications normally prescribed weren't working for the man and he went to Wszolek for a third opinion. He learned that the man's sister, his mother and uncle died of the same symptoms, and the doctor became curious, as Parkinson's is rarely hereditary.

"So I started in my spare time to investigate this family," he said. "I had four generations with four affected — very tiny pedigree," Wszolek said.

He traveled to Arizona to look at the uncle's autopsy; he examined the Mormon genealogy archives in Salt Lake City. He also contacted the University Hospitals in Iowa City, where he discovered a grandmother had died in 1942, but officials told him that her medical records had been lost.

As his patient continued to crumble, Wszolek seemed to be at a standstill. Then a University of Iowa doctor told Wszolek he was treating a woman with similar symptoms who also had several family members plagued by this mystery brain disease.

Wszolek couldn't link them genetically, but his fascination with this case led him to turn down a neurology fellowship in the UK, and instead he went to the University of Iowa.

In the basement of University Hospitals, Wszolek found the grandmother's records. She was adopted and had grown up with the name Jones, but her biological mother was Sarah Bott. He cross-checked his colleague's patient's records and found that Sarah was her great-grandmother. The family tree went from 20 to more than 300 people.

The doctor began spending his vacations and weekends travelling the country, mapping the family and documenting victims on an 11-foot family tree. There are today 315 living descendants in 11 states; 48 have PPND.

Read the complete story here, and learn how readers can assist with the research by contributing to a fund to cover research trips to Mayo Clinics in Minnesota and Florida. Click here for a related story on how the Montana relatives are living with this.

Read the Genealogy Insider blog post for online family health history resources.

Ohio: Jewish genetic diseases, June 3

Certified genetics counselor Gary S. Frolich will speak on “Our Heritage and Our Health – The Importance of Being Informed” at the next meeting of the Jewish Genealogy Society of Cleveland event on Wednesday, June 3.

The meeting at Menorah Park begins with a free dinner at 6.30pm, followed by Frolich's talk at 7.30pm.

Ashkenazi Jews share a history rich in eastern European traditions and a strong sense of community. But they also share an increased incidence of Jewish genetic disorders (JGD) such as Gaucher, Tay-Sachs, familial dysautonomia, cystic fibrosis, Niemann-Pick and Canavan. Early screenings for these disorders and others can identify inherited genes that could lead to genetic disorders in children, says Gary S. Frohlich, M.S., CGS, senior medical affairs liaison for Genzyme Therapeutics.

Many genes have been identified and work continues to find cures.

“During the Crusades, many Ashkenazi Jewish communities were driven from England, France and Germany and migrated to eastern Europe, settling primarily in modern-day Poland, Lithuania and Russia,” explains the affairs liaison for Genzyme Therapeutics. “Ashkenazi Jews tended to select marriage partners from within their own community, which played a role in limiting genetic diversity.”

Frolich asks genealogists to shake their family trees and help identify those with a Jewish genetic disorder so they can educate other family members. Today, there are screening tests for at least 11 disorders; some centers can screen for 15-25.

The most widely-known Jewish genetic disorder is Tay-Sachs, which has benefited from testing since the 1970s. Intensive community-wide testing has lessened the incidence by about 90% for this fatal condition.

Frohlich speaks to synagogues, genealogy societies, Jewish organizations and Hillels to raise awareness. Many rabbis also advise young couples to undergo genetic testing as part of pre-marital counseling.

[NOTE: Although this talk is centered on Ashkenazi disorders, there are Sephardic disorders as well. Additionally, screening is also important as more intermarriage takes place. A couple may feel they are safe as one person may not identify as Jewish today. However, the non-Jewish spouse could have unknown Jewish roots just a few generations back and might be a disorder carrier without knowing about the possibility.]

For more information on any Jewish genetic disorders, visit the Jewish Genetic Disease Consortium or the National Society of Genetic Counselors.

Read the complete story here.

Genetics: Breast cancer study - not only Ashkenazi

A New York University study investigating the genetic roots of breast cancer is detailed here, focusing only on Ashkenazi women and ignoring other populations who carry these genes, such as Hispanic women who descend from Converso ancestors who settled the US Southwest.

Despite the fact that some Hispanic women - found to be descendants of Converso families (those forced by the Inquisition to convert to Catholicism in Spain and Portugal) who were early settlers in Colorado, New Mexico and other Southwest states - present with the same gene, and also despite the DNA genetic evidence that a growing number of Ashkenazi families actually have Sephardic roots, I fail to understand why more Sephardic and Hispanic women are not included in these studies.

In fact, the Jewish history of Italy and Sicily might also provide new food for thought in this area.

According to a Smithsonian Magazine article on the San Luis Valley women:

By comparing DNA samples from Jews around the world, scientists have pieced together the origins of the 185delAG mutation. It is ancient. More than 2,000 years ago, among the Hebrew tribes of Palestine, someone's DNA dropped the AG letters at the 185 site. The glitch spread and multiplied in succeeding generations, even as Jews migrated from Palestine to Europe. Ethnic groups tend to have their own distinctive genetic disorders, such as harmful variations of the BRCA1 gene, but because Jews throughout history have often married within their religion, the 185delAG mutation gained a strong foothold in that population. Today, roughly one in 100 Jews carries the harmful form of the gene variant.

The 2001 Colorado cases in San Luis Valley showed that these genes are present in Sephardic populations and are not limited to Ashkenazi women.

New York University is asking only Ashkenazi (Eastern European) women to participate in this nationwide project and to provide a DNA sample. Scientists hope to find genetic mutations that cause women in that population to develop breast and ovarian cancer at a much higher rate than others.

The workshop, "Beyond BRCA1 and BRCA2: The Next Generation of Genetic Discovery" will be offered at other places in the region as researchers attempt to enroll 1,000 women in the study. Women who attend the talk given by the Jewish Women's Breast and Ovarian Cancer Genetics Study at NYU, will also have the opportunity to give a DNA sample.

In the newspaper story, genetic counselor Lauren Carpiniello, who helps run the study, said that the scientists are focusing on women of European Jewish ancestry because they are much more likely than other groups to carry two genetic mutations linked to breast and ovarian cancer, known as BRCA1 and BRCA2, than other populations.

For more information, read the newspaper story, the Smithsonian Magazine link and Tracing the Tribe's previous post.