Genetic study offers clues to history of North Africa’s Jews


A new genetic analysis has reconstructed the history of North Africa’s Jews, showing that these populations date to biblical-era Israel and are not largely the descendants of natives who converted to Judaism, scientists reported on Monday.

The study also shows that these Jews form two distinct groups, one of which is more closely related than the other to their European counterparts, reflecting historical migrations.

The findings are the latest in series of genetic studies, which began in the 1990s, indicating that the world’s Jews share biological roots, not just cultural and religious ties. In many cases the analyses have confirmed what scholars had gleaned from archaeological finds and historical accounts.

“This work demonstrates a shared genetic history among the Jews of North Africa and strengthens the case for a biological basis for Jewishness,” said medical geneticist Harry Ostrer of the Albert Einstein College of Medicine in New York, who led the study.

For the new analysis, published in the Proceedings of the National Academy of Sciences, Ostrer and his colleagues examined the genomes of 509 Jews and 11 non-Jews from North Africa, which is home to the second-largest Jewish diaspora. Only the European diaspora, which includes American Jews, is larger.

The scientists found that the Jewish populations of North Africa became genetically distinct over time, with those of each country carrying their own DNA signatures. That suggests they mostly married within their own religious and cultural group, said Ostrer. “They lived in ghettos,” he said, “so their mobility was quite restricted, and by marrying each other they became as closely related as first cousins once removed.”

The analysis showed that all North African Jews are descended from forebears in the Middle East, supporting the hypothesis that biblical-era Israelites among Phoenician traders established colonies along the North African coast.

Common DNA signatures also show that some groups are closer, genetically, to their European co-religionists than expected. That suggests “a shared set of founders,” said Ostrer, presumably Jews from the Middle East who migrated west.

If Jewish populations in North Africa and Europe shared ancestors, then Sephardic Jews who settled in Africa after being expelled from Spain during the Inquisition originated in North Africa more than 1,000 years earlier. “The Sephardic Jews show significant North African ancestry,” said Ostrer. “That could reflect bidirectional migrations” to and from North Africa and Europe over the centuries.

EXODUS FROM EGYPT

DNA evidence lends credence to accounts that in 312 BC Egypt’s king settled Jews in Cyrenaica, in what is now Tunisia. According to the Jewish historian Josephus (born in AD 37), by the first century AD there were 500,000 Jews there. The DNA that Tunisian Jews share with those of the Middle East supports accounts that, after the destruction of the second temple in Jerusalem in AD 70, 30,000 Jews were deported to Carthage, in what is now Tunisia.

North African Jews fall into two genetically distinct groups: those of Morocco and Algeria and those of Tunisia and Libya. The former are more closely related to Europeans, suggesting that when the Sephardic Jews were expelled from Spain in 1492 and from Portugal in 1497 most of those escaping to North Africa put down stakes in the first lands they reached rather than traveling farther east.

Experts not involved in the new study saw no major surprises but credited it for the breadth of its findings.

“What’s new here is the inclusion of several Jewish communities whose DNA had not been studied before, such as those of Tunisia and Georgia,” said geneticist Marcus Feldman of Stanford University, co-author of a 2009 study that found significant genetic similarity between European and Middle Eastern Jews.

Including Georgian Jews led to one surprise: that they are closely related to those of the Middle East, including those in Iraq and Iran. “That shows there was significant migration of Jewish populations along the Silk Road beginning in the Persian Empire,” said Ostrer. “Just a small number of founders started Jewish communities in India, Burma, and Georgia.”

The Jews of Ethiopia are so distantly related to other Jews that their community must have been founded by only a few itinerants who converted local people to Judaism and then married within the local population. It also suggests the founding was more than 2,000 years ago.

That antiquity helps explain why Ethiopian Jews airlifted to Israel during “Operation Moses” in 1984 had no idea about the holiday of Hanukkah, which commemorates events of the second century BC—long after their ancestors had left Israel. (Editing by Douglas Royalty)

Prop. 73: The Devil’s in the Details


When Californians go to the polls on Nov. 8, many will read Proposition 73 as a proposal to require that health care providers perform the seemingly logical task of informing parents before performing abortions on underage girls.

But the considered opinions of doctors and Juvenile Court judges, as well as a look at the actual text of Proposition 73, reveal that the initiative is fraught with adverse ramifications for virtually all Californians. It also poses particular issues for the Jewish community.

Much of the literature against Proposition 73 correctly emphasizes that many teenage girls will seek underground abortions, rather than have their parents (or guardians, foster parents or other legal designees) learn that they are pregnant. Thus, under the banner, “Protect California’s Teens,” a Planned Parenthood Web page urges that defeating Proposition 73 is essential to ensuring that desperate teenagers retain access to safe and legitimate medical care.

This emphasis is entirely appropriate. But there’s more to object to in this ballot initiative. One of the proposition’s most troubling aspects lies within the fine print. Proposition 73 amends the California Constitution to define abortion as a procedure ending the life of a “child conceived but not yet born.”

This radical definition has profound implications not only for teens, but also for adult women. And this carefully calculated wording should be of particular interest to the Jewish community.

Many Jewish couples undergo genetic screening as part of family planning. Those of us who learn we are dual carriers of genetic mutations (e.g., Tay Sachs) know there is a one in four chance of conceiving a child afflicted with the disease.

Couples who face this risk make the wrenching choice of attempting to have a biological child, while also taking the precaution of undergoing testing after conception. Diagnosis is possible through either chorionic villus sampling 10 to 12 weeks into the pregnancy or amniocentesis in the second trimester. Couples choose such procedures with the hope of having a healthy baby.

But typically, they also have resolved to terminate a pregnancy that would, if carried to term, bring forth a child doomed to endure unconscionable suffering ending in early death. A couple that follows this course of action sometimes has the blessing of Orthodox rabbis who would ordinarily oppose abortion.

Amending California’s Constitution to define abortion as ending the life of a “child conceived but not yet born” has profound implications for adult Jewish couples that rely on pregnancy testing. The proposition’s language would, in effect, shorten the road to outlawing abortion.

Indeed, that appears to be the aim of James Holman, the San Diego millionaire who backed Proposition 73 with $800,000, most of which went to paid signature gatherers to get the initiative onto the ballot. In line with his devout, conservative beliefs, Holman has expressed opposition to contraception, as well as to abortion apparently under all circumstances, including rape and incest.

Defining abortion as terminating the life of “a child that is conceived but not yet born” also could undermine the legality of stem cell research, perhaps the most promising scientific frontier of the 21st century. Here again, the medical implications are heightened for those of us in the Jewish community who recognize that stem cell research may herald the cures for degenerative diseases linked with genetic markers prevalent among us.

This subtle but intentional groundwork for outlawing abortion is reason enough for opposing Proposition 73, but even at face value, this measure would do more harm than good. It is opposed by Planned Parenthood, of course, and other pro-choice organizations, but also by California Women Lawyers, a statewide organization that promotes the general interests of women in society, as well as the California League of Women Voters.

Women’s advocacy organizations are correct to cite the dangers to teens posed by parental notification initiatives. Indeed, efforts to decriminalize abortion in the 1970s were largely spearheaded by doctors, lawyers, and clergy who knew only too well that making abortion illegal did not prevent abortion, but simply made the procedure lethal to many women who sought out illegal abortions.

Today, the American Medical Association, the American Academy of Family Physicians and the American College of Obstetricians and Gynecologists all oppose parental notification laws, citing the risk to teens. According to the American Academy of Pediatrics, mandating parental notification does not achieve the intended goal of family communication, but does increase the risk of harm by delaying access to appropriate medical care.

Parental notification is also opposed by Bill and Karen Bell, who lost their daughter to an illegal abortion in 1988. Although Becky Bell belonged to a loving Indianapolis family, this high school junior pursued an underground abortion, rather than tell her parents. The Bells never had the chance to tell their daughter they were not, after all, angry at her.

Instead, they became outraged at the parental notification law, operative in Indiana, that compelled their daughter to resort to the underground abortion that claimed her life. In the wake of their family tragedy, the Bells became activists against parental notification laws.Proposition 73 contains a supposed answer in its “judicial bypass provision,” which would enable teens to seek court orders excusing health care providers from the parental notification requirement in appropriate circumstances. This provision is unrealistic and unreasonably cumbersome both for teenagers and the courts, which is why Juvenile Court judges have gone on record against it.

To activate this provision, California courts would have to appoint guardians ad litem to speak on behalf of teenagers and, in most cases, to appoint lawyers for the minors, as well. In sum, the law would impose a mandate upon all courts, with no source of funding to carry it out.

Like many of my colleagues on the California Women Lawyers board, my personal choices were for marriage and children. I hope, want and expect that my daughters will come to me, however reluctantly, if they became pregnant unexpectedly. But a sweeping parental notification requirement will affect all families, including vulnerable teenagers in broken and abusive families.

As the tragic example of Becky Bell reminds us, even girls in “good” families may resort to underground abortions. And, a close examination of Proposition 73 makes clear that its language and intentions strike far closer to home than many of us previously thought possible in California.

The Jewish community — and everyone else — should oppose Proposition 73 not only because it is bad for teenage girls we may never meet, but also because it is bad — and dangerous — for adults, including ourselves.

Angela J. Davis is president-elect of California Women Lawyers, an independent bar association that advocates on public-policy issues.

 

Web Helps Jews Trace Genes


Seven years ago, Montreal businessman Stan Diamond arranged to index the Jewish records of his ancestral town of Ostrow Mazowiecka, Poland, because he wanted to trace the path of a rare genetic condition within his family tree.

Diamond’s goal was medical as well as genealogical, since he sought to alert potential carriers of the beta thalassemia trait of the hazard involved. Offspring of two carriers stand a one-in-four chance of acquiring a blood disease that is always fatal, usually before they are 20.

After tracing his own ancestry back to 1760, and finding and warning many distant relatives with the genetic trait, Diamond realized that a wider indexing project would be a boon for thousands of Jewish genealogists.

“I began to think, ‘Wouldn’t it be wonderful if we could do this for all of Poland?'” he recalls.

With the help of fellow genealogists Steven Zedeck of Nashua, N.H., and Michael Tobias of Glasgow, Scotland, he became coordinator of the Jewish Records Indexing Project (JRI) for Poland, which to date has produced an index of 1.8 million vital Jewish records from the 19th century.

The index is easily accessible and searchable on the Internet, where it is consulted by hundreds of researchers every day.

The project relies upon a widespread network of hundreds of volunteers whose efforts are coordinated largely over the Internet.

It also employs several Russian-born data-entry clerks in Warsaw. Facility with both Russian and Polish is essential for these workers because the record books were handwritten in Polish until 1868 and in Russian thereafter.

A former manufacturer of decorated ceilings and the president of the Jewish Genealogical Society of Montreal, Diamond estimates that roughly 20 percent of all available Polish Jewish records have been included in the JRI-Poland database so far.

It is the largest and perhaps the most impressive of about 60 indexing projects accessible via JewishGen, the Internet gateway to Jewish genealogy.

In its six-year existence, JewishGen has experienced explosive growth. The nonprofit communal organization maintains a Web site that is a focal point for daily discussion groups and many volunteer projects, including an effort to post a growing number of searchable databases to the net.

The Jewish Genealogical Family Finder (JGFF), a computerized listing of researchers’ ancestral surnames and towns, offers a striking example of the phenomenal rise in popularity of Jewish genealogy in recent years.

In its first 14 years, the JGFF grew to include about 3,200 participants until it was taken over by JewishGen in 1996. Since then, an additional 60,000 people have contributed their research details.

“The number of people doing Jewish genealogy has unquestionably grown enormously,” said Gary Mokotoff, head of the New Jersey-based Jewish genealogical publishing house, Avotaynu Inc.

Since the advent of the Internet, the annual gatherings of the genealogical community have swelled in size. Between 800 and 1,000 registrants are expected at the 22nd international conference on Jewish genealogy in Toronto from Aug. 4-9.

Diamond and Mokotoff are among a roster of international speakers slated to deliver more than 150 talks at the conference. Diamond is a possible recipient of an award, presented each year by the conference’s host group, the International Association of Jewish Genealogical Societies.

The gamut of conference topics ranges from the latest developments in genetics and DNA research to the newest wrinkles in the age-old pursuit of tracing the lineages of King David and the medieval sage Rashi. Other topics include how to find records in many Jewish ancestral lands, how to trace Holocaust victims, how to get the best results from the Ellis Island database of passenger arrivals to New York, how to find cousins in Israel, and much more.

The conference also offers a beginners workshop, numerous meetings of special-interest groups, a vendors marketplace and nightly screenings of roots-related video documentaries.

Thanks to the advent of the Internet and the opening up of archives in Eastern Europe and other factors, there’s never been a better time to be doing Jewish genealogy, according to Diamond.

“Everything used to be against us, with the whole process of writing letters and making expensive long-distance phone calls,” he said. “Now it seems all the pins are falling into place.”

A Decrease in Vigilance


A conference on genetic diseases held by the Cultural Foundation of Habib Levy in November led The Journal to examine the Jewish community’s reduced state of awareness about genetic testing for prospective parents. During the past 30 years, large-scale genetic screening of Ashkenazi Jews in the U.S., Israel and other countries has reduced the number of babies born with Tay-Sachs, the most widely known Jewish genetic disease, by 90 percent. Yet today, younger Jews are less conscious of Tay-Sachs and even less aware of testing made available during the past five years for a newer array of genetic diseases. Geneticists and physicians confirmed that many people are not adequately informed about their genetic testing options. Regardless of their educational background, few individuals know if they fall into a high-risk category for genetically transmitted diseases. Experts interviewed maintain there has been a relaxation in vigilance about carrier screening and a consequential rise in danger signals for American Jews of Ashkenazi descent.

Dr. Dana Eisenman, a general internist with the Health Source Medical Group who spoke at the November conference, outlined some of the major genetic diseases that Jews need to be tested for: Tay-Sachs, Niemann-Pick, Gaucher, Canavan and cystic fibrosis. “Gaucher is the most common genetic disease in Jews,” he said, “but it is less well-known than Tay-Sachs. Unlike Tay-Sachs, symptoms such as anemia, bone pain and fractures don’t often show up until adulthood. For this disease there is replacement enzyme available that reverses many of these symptoms.”

Cystic fibrosis causes mucus to build up in the bronchial tubes and the digestive system to fail to absorb nutrients. “In Ashkenazi Jews,” Eiseman explained, “the carrier rate is one-in-40. As with the other genetic diseases, there is a 25 percent chance of a baby having the disease. Malnutrition and lung failure usually lead to death by the age of 30.”

Tay-Sachs and Niemann-Pick, both caused by enzyme deficiencies, result in progressive brain damage and mental retardation from infancy, with death usually occurring in early childhood. Some variants of Niemann-Pick, which causes enlargement of the liver and spleen, turn up in older children, and one type does not affect the brain.

Unless there is a family history of one of these diseases, the issue of carrier genetic testing usually arises with a decision to have children. Until recently, the only commonly available tests were Tay-Sachs for Jews and sickle cell trait screening for African Americans. Eisenman stressed that today carrier genetic testing is available for all of these diseases.

“Each cell in our body has two sets of genes,” he explained, “one set inherited from our mother, one set from our father. In most cases, only one normal gene of a pair is necessary for a cell to function normally. And so if a person has one defective Tay-Sachs gene from his mother but a normal gene from his father — one bad gene, one good gene — he will not have the disease. Now if the woman is also a carrier, each of the children of this couple has a one in four chance of having the disease.

“Through carrier genetic testing, the prospective parents can identify high risk pregnancies and then decide what to do,” Eisenman said. “Any couple should avail themselves of all the tests for these rare diseases that could affect the fetus. Most insurance plans will cover these, if you’re persistent about it.”

Later, in a follow-up interview, Eisenman said that “it’s really the diseases other than Tay-Sachs that are being ignored. I believe they should all be tested, even though the risk is maybe one in a thousand. If the mother is tested and she’s negative, then it really doesn’t matter what the father is.

“Probably the biggest threat to health resources is cystic fibrosis,” he added. “One couple came from a family of doctors, but weren’t aware of it and didn’t test for it. One in every thirty white people carry the gene of cystic fibrosis. So that is probably the most important one to be tested.”

“There’s a decreased vigilance in the Jewish community even regarding Tay-Sachs,” said Dr. Judith Tsipis, professor of biology and director of the genetic counseling program at Brandeis University. “I think that one in 25 Ashkenazi Jewish individuals are carriers of Tay-Sachs. In the late l960s, they developed a biochemical test to find out if someone was a carrier or not, and that enabled couples to make informed reproductive decisions. At that time a lot of people knew families who had children with the disease; it was very much on people’s minds.

“What has happened is that the program has been spectacularly successful,” Tsipis continued. “But the next generation no longer has that sensitivity to the issue, and they’re still genetically at risk. College students, young couples getting married, rabbis counseling couples are not mentioning the possibility of carrier testing the way they used to. And that’s a pretty disturbing trend. I certainly know of several couples who were not informed and who had children with Tay-Sachs recently.”

Screening for Canavan disease — also known as spongy degeneration of the brain — is now urgently recommended, Tsipis stressed. “Whenever Tay-Sachs is discussed, Canavan should be discussed,” she said. Canavan strikes one in 6,400 children, and there are only about 200 children in the U.S. with the disease. But once a child inherits two copies of the Canavan gene, the child’s brain inexorably deteriorates, wiping out thinking, feeling, emotions, vision and muscle control. As the disease progresses, it causes seizures, severe feeding problems, retardation and blindness. Most children die between ages 10 and 15.

Tsipis — whose son died of Canavan disease in 1998 — explained the real story is the overall lowered awareness in the Jewish community: “You don’t need to have a family history in order to be a carrier and at risk. People say, ‘Gee, I don’t need to be tested. I have no relatives with Tay-Sachs.’ But that’s not the way recessive inheritance works. It’s two families coming together.”

Dr. Ellen Knell, a geneticist at the conference who specializes in cancer risk assessment, underscored the concerns of Tsipis. “An awful lot of the young people who are of child-bearing age do not even know about Tay-Sachs,” Knell told The Journal. “When the screening program was new, everybody got screened and everyone knew about it. But when have you last heard about it? ”

Knell also pointed to the need to test for all of the five major diseases.

“The bottom line is that these diseases still happen,” she said. “The carrier rate for Tay-Sachs is the same as it has always been, and there are about eight things one can do to not have a Tay-Sachs baby. The same applies to the other diseases as well. Depending on how religious you are, you can choose prenatal detection, with the option of aborting an affected child, because three-fourths will be normal. You can choose to have a donor sperm, artificial insemination from an unknown nonspouse. If you are very religious and are against these procedures, you can be anonymously tested and be introduced to someone who is not carrying the same mutations you might have. So there’s a range of options. The important thing to me is that if you’re unaware of all this and don’t have any testing at all, you may have an unpleasant outcome that you were not aware could occur.

“Look,” Dr. Knell said. “The only two ways that you find out if you’re a carrier of an abnormal gene is one, to be tested or two, to have a child with that disease. Most people would choose not to bear and give birth to a baby that’s going to die in three to five years. This is not past history. This is something that still needs to be dealt with. People are still getting these diseases.”

For information about support groups related to genetic diseases:

National Tay-Sachs & Allied Diseases
Association, Inc.

2001 Beacon St.,
Suite 204
Brighton, MA 02135
(800) 906-8723
(617) 277-4463
http://www.ntsad.org

National Society of Genetic
Counselors

233 Canterbury Drive
Wallingford,
PA 19086
(610) 872-7608
www.nsgc.org

National Foundation for Jewish Genetic
Diseases

250 Park Ave.
New York,
NY 100ll
www.nfjgd.org

National Niemann-Pick Disease
Foundation

3734 East Olive Ave.
Gilbert, AZ 85234
(920) 563-8677
(877) 287-3672
www.nnpdf.org

The Trouble with Testing


As if we don’t have enough problems, it seems there’s an unlimited supply of horrific hereditary diseases just waiting to ensnare Jews and their children. Tay-Sachs cripples infants before their first birthday and eventually kills them, Gaucher disease erodes healthy bones and organs, Niemann-Pick, cystic fibrosis, Crohn’s, Canavan and dozens of others. And that’s just among Eastern-European Ashkenazi Jews. A host of other hereditary diseases affect Sephardic, Iraqi and Persian Jews. Does somebody up there hate us?

Not according to Dr. Jerome I. Rotter, co-director of the Medical Genetics-Birth Defects Center at Cedars-Sinai. “While the Jews are very special,” he says, “when we talk about the distribution of disease, they’re not all that special. Every population has a susceptibility to its own set of hereditary diseases.” It’s an important point to make, coming as it [did] at the conference “Genetic Medicine and the Jewish Population,” was held at Cedars-Sinai Medical Center on Oct. 24.

While science has made enormous strides in creating tools to fight the genetic diseases that afflict many Jews, the impact of those tools have a profound and intimate effect on all of us, Jews and non-Jews alike. And as a result, our society is now confronted with some of the most complex and difficult questions we’ve ever had to face.

Our genes are the code that stores all the information needed to build a human being. Occasionally, through the process of evolution, a single gene can mutate, confusing that information and rendering an individual susceptible to disease. Sometimes an individual is just a carrier, meaning he will never develop symptoms of the disease, but might pass on that susceptibility on to his children. For recessive diseases, like Tay-Sachs or Gaucher disease, both parents must be carriers, and both must pass on an abnormal gene for a child to develop the disease.

Over the last half-century, scientists have developed methods to pinpoint specific mutations on individual genes, allowing them to test individuals for genetic diseases. And although most of us are aware of this work, few of us seem to understand its profound implications: In a very real way, science can now tell the future. Suddenly, we’ve entered a brave new world of medicine, and the benefits we already reap from this new paradigm are great.

This is uniquely apparent in breast and ovarian cancer, two of Ashkenazi women’s most serious health concerns. While all women are susceptible to these diseases, Dr. Maren Scheuner, director of the GenRISK genetic testing and counseling program at Cedars-Sinai, says that when a family history of breast cancer is present, Jewish women are at a much greater risk than non-Jews of developing the disease.

While there are currently no easy cures, women who test positive for one of the genetic mutations that cause breast cancer can take steps to improve their chances of survival if the cancer does develop. “For high risk women, you’ll just have a higher suspicion and start all the screening much earlier, usually around 25,” says Scheuner. Now, most women begin screenings at age 40.

Genetic medicine’s new tools mean that we can screen entire populations to find healthy carriers of a disease and prevent that disease from spreading, eliminating the need for any treatment at all.

Dr. Kaback is intimately familiar with this process, being one of its pioneers. He began the first screenings for Tay-Sachs in Baltimore in 1969, and in Southern California in 1971. Since then, his program has voluntarily tested more than 1.4 million adults, identifying and counseling almost 1,400 couples at risk for bearing children with the disease. “These families have had over 3,200 pregnancies, and of those, 620 were Tay-Sachs-identified,” says Kaback. “With the exception of about 20 of them, the families elected to terminate the pregnancy.” Certainly, abortion is an extremely difficult decision, but many parents found it a better alternative to watching their child develop this disease by six months of age, deteriorate into mental and physical paralysis, and finally die before age 5.

It’s estimated that one in 25 Ashkenazi Jews is a Tay-Sachs carrier. Prior to genetic screening, the disease was so common among Jewish populations that hospitals across the country had special wards to care for these children. Today, only three to four Tay-Sachs babies are born in North America each year. Similar screening programs have been implemented to help prevent Gaucher disease, Canavan disease (a neurodegenerative disease) and cystic fibrosis, among other genetic diseases .

So genetic screening is wonderful, right? Not always. The process can quickly transform the most logical questions of science into sticky ethical dilemmas. Even such issues as a doctor’s responsibility become obscured. “If I know that my patient carries a certain genetic trait, he may not be at risk for that problem, but his sister may be at risk,” says Dr. Kaback. “Do I have an obligation to contact his sister? Suppose I don’t contact her, and she has a child affected with that condition. Do I have any legal responsibility in that context?”

And the questions get even more existential. “If I’m tested for a genetic trait and have it,” says Kaback. “Instantaneously the doctor who does that test knows that my brothers and sisters are at a 50 percent risk of having that same genetic trait. They know that my children have a 50 percent chance of having that trait. Who is the geneticist’s patient? Is it the client sitting across the desk, or is it their extended family? Or is it the entire population group from which that individual is derived?”

The problem is that genetic screening can tell us the future, and knowing the future is always a double-edged sword. When you screen healthy individuals, you may find a gene for a disease that won’t show up for years. “How does it affect the person’s self-image,” asks Dr. Kaback. “To know that they have a gene that’s going to possibly cause them to have cancer or mental illness or some neurological problem or heart disease later in life? How does it affect their upbringing? How many Willie Mayses or Sandy Koufaxes might never have achieved excellence athletically, if someone knew they had a predisposition to some illness later in life when they were children?”

Dr. David L. Rimoin, director of Cedars-Sinai’s Medical Genetics-Birth Defects Center, and one of the organizers of the conference would agree.

“The reality is that we can screen for every disease,” he says. “And every one of us in the population, of any population, will be found to be carriers of several genetic diseases.”

But Rimoin feels that this knowledge can do so much good, as it’s done with Tay-Sachs, that it shouldn’t be ignored. That’s why he organized the conference, and why he is trying to start a Jewish genetics center at Cedars-Sinai.

Conquering A Disease


Los Angeles residents Pam and George Smith never expected to create a foundation that would raise more than $4 million for research. But then, they never expected their daughter to be born with a genetic disease so rare that it effects only between 500 to 1,000 Americans.

In the early 80s, Becca Smith seemed like any other happy, healthy infant. When it came time for her to advance from toddling to walking, however, Becca remained unusually wobbly. Medical tests initially indicated cerebral palsy. But eventually, a pediatric neurologist grew suspicious and decided to run additional tests. When the Smiths inquired about the doctor’s concerns, he chillingly responded, “You don’t want to know.”

Becca was diagnosed with Ataxia Telangiectasia (A-T), a rare, progressive neurological disease. A-T effects the nervous and immune systems, causing loss of balance and increased frequency of infections. It has no known cure. When Becca was diagnosed with A-T in 1983 at the age of five, life expectancy was estimated at teens to early 20’s.

The Smiths were determined to learn all that they could about this rare condition, but they found little information. At a time before the Internet, George and Pam Smith had to conduct their own fact finding mission, traveling across the county for information. What they uncovered was meager and discouraging. Speaking to scientists at the National Institutes of Health, the Smiths were told that, because of its rarity, A-T was an “orphan disease” and “not a funding priority.”

Eventually, the Smiths discovered that a doctor in Los Angeles, Elena Boder, had originally diagnosed and named A-T. When they contacted Boder, she introduced the Smiths to Dr. Richard Gatti, a match that would change the course of the disease.

A Professor of Pathology and Laboratory Medicine at UCLA, Gatti was studying A-T as a model for understanding the relationship between immunology-how the body protects against disease and infection-and cancer. When Gatti described his research to the Smiths, George was sufficiently impressed to ask Gatti how much he would need to sustain his lab and concentrate on research. The answer was $100,000.

Smith responded, “You’ve got it. I’ll do it.”

Gatti also told the Smiths about a researcher named Yossi Shiloh, who was setting up a lab in Tel Aviv and needed $25,000 a year. Again, George responded, “You’ve got it.”

The Smiths are no strangers to charitable activities. George, Chairman and CEO of a real estate financing company, has received the Man of the Year Award from the Jewish Federation’s Real Estate Division and chairs the Israel bond appeal at Sinai Temple. Pam has earned the Federation’s Lion of Judah designation, and raises funds for the Museum of Contemporary Art, where she serves as President of the Project Council.

But after committing funds to Gatti and Shiloh, says George, the couple realized, “We better start up a foundation and start raising money from our friends.”

In 1984, the Smiths began the Ataxia-Telangiectasia Medical Research Foundation (A-TMRF), beginning what George calls a “sixteen year odyssey … to slow the progress of the disease and … someday find a cure.”

To generate funds, Pam initiated an annual luncheon. Now in its 13th year, the event attracts about 200 women. Soon George instituted the annual “George Smith Partners Real Estate Luncheon,” which attracted more than 1,600 professionals this year. He also began a program for senior real estate executives, offering an exclusive Executive Luncheon Series in exchange for a $2,500 membership. The fruits of these endeavors have enabled the A-TMRF to fund a permanent laboratory for Gatti at UCLA, develop Shiloh’s lab in Tel Aviv, host three International Medical Conferences on A-T and award research grants to scientists throughout the globe.

When Gatti first met the Smiths, he had just petitioned the NIH for a grant to locate the chromosomal region of the A-T gene, but was told that the task he proposed was “Herculean” and “would probably never reach fruition.” The Smith’s funding enabled him to take the time needed-14 years-to pursue the task.

“Federal funding is notoriously fickle,” explains Gatti, noting that the NIH likes to see substantial progress on research it has funded within three years. Without the A-TMRF, he says, the project would have “died on the vine.”

In 1988, Gatti and his lab made history by locating the chromosome which carried the A-T gene. Gatti’s work cleared the way for a second major breakthrough in 1995, when Dr. Yossi Shiloh’s lab in Israel cloned the A-T gene. This meant that researchers could finally study the A-T gene instead of looking for it, turning their attention to developing ways to treat patients and slow the disease’s progression.

Now, A-T has gone from a disease that Gatti says, “my colleagues couldn’t pronounce” to a hot research area. Approximately 200 laboratories throughout the world are presently involved in research on A-T, compared to only a handful just a decade ago.

The NIH recently awarded Gatti and a colleague $2.4 million to further study A-T and its relationship to cancer.

But as research progresses, the clock continues to tick for Becca, now 21 years old. Scientific developments have meant improvements in diagnosis of the disease, but still no cure or treatments.

A-T has robbed Becca of her ability to walk without assistance. Her speech is slurred and she depends on others for assistance with writing and dressing. Although Gatti says life expectancy for A-T patients in the U.S. has climbed to the 30s and 40s, the Smiths can’t help but wonder whether the research will progress quickly enough to help their daughter.

But Becca, whom Gatti says is “in good health,” seems to live her life in the present. She graduated high school and is enrolled in Moorpark College in pursuit of an Associate of Arts degree. Four years ago, the Smiths moved from the westside to Calabasas so Becca could ride horses, an activity she began at the age of nine. Riding, swimming and working out with a physical therapist helps keep Becca strong.

Now, like her parents, Becca has gotten into the fund-raising game. In May, she and Pam opened Becca’s Chic Boutique, a designer resale shop on Ventura Boulevard in Woodland Hills. “We have great clothing from many of the top designers with stores on Rodeo Drive,” Becca boasts. Of course all proceeds benefit the A-TMRF.

George Smith says that the A-TMRF’s luncheons and programs provide him with “a venue to strike at the consciousness of people.” In all his various activities, says Smith, “My theme is: Go do something constructive with your life.” The approach seems to run in the family. To find out more, call A-TMRF at (818) 704-8146.

Autism: The New Epidemic


Barbara and Sheldon Helfing never
expected to have one autistic child, much
less two. Their son Leland, now 5, was born
prematurely and began showing signs of a
neurological disorder before reaching his
1st birthday.

“Leland had very poor balance and he
wasn’t yet responding to us with words or
gestures,” Barbara said. “But initially autism
did not come up because he was clearly
interested in his surroundings and in other
people.”

Leland began getting help through the
state’s Early Intervention Program. However,
since the state agency did not require a
diagnosis prior to providing services, the
Helfings had no idea that their son’s
problem might be genetic. When Nathan
was born, the Helfings rejoiced in their
healthy new son, but by the time he was 18
months old, the heartbroken parents could
no longer hide from the fact that their
younger son had also fallen prey to the
disorder.

The Helfings are part of a growing trend that
is affecting the Jewish community in
unprecedented numbers. The statistics
most often quoted in past reports about
autism state that autism spectrum disorders
occur in four to five in every 10,000 births.
However, according to the Autism Society
of Los Angeles, a soon-to-be-released
report on children in the state of California
shows a 400 percent increase between
1986 and 1996 — or one in every 500 births.

In terms of the Jewish community, a study
being performed at Stanford University’s
School of Medicine is looking into how
families of Ashkenazi origin are affected
(see box). Researchers stress that so far
there is no indication that Ashkenazi Jews
have more of a tendency toward autism than
the general population. However,
professionals who work with autistic children
say the overall increase in cases has had a
definite impact on Jewish families.

“While I would not say the Jewish community
is any more hard hit than other communities,
we are certainly seeing plenty of Jewish
families with this problem,” said Dr. John
Lutzker, chair of the department of
Psychology and director of graduate training
at the University of Judaism in Los Angeles.
“I have contact with the (state-run) Regional
Centers and with the school districts and
they cannot put a lid on this. It is indeed an
epidemic.”

Dr. Sandra Kaler, a psychologist
associated with the Neuropsychiatric Unit at
UCLA, agrees.

“The Jewish community has been equally
struck by this and I think there was an
assumption we would not be,” Kaler said.
“Now when I go out to a Jewish preschool to
do an evaluation, I frequently see one or two
children with autism, where before it was
very rare to see more than one.”

Autism is a neurological disorder that
typically appears during the first three years
of life and includes disabilities or delays in
the areas of social skills, communication
and cognitive development. Children can
either be born with the disorder or develop
normally and then regress, usually between
the ages of 18 and 24 months. It occurs four
times more often in boys than in girls (one
reason why scientists suspect a genetic
link). About 70 percent of children with the
disorder also show some degree of mental
retardation. Autism is considered a lifelong
disability, but with early intervention many
children learn enough skills to lead
independent lives.

No one knows for sure what has caused the
skyrocketing numbers of children diagnosed
with autism. Because of the gender bias
and because so many families have more
than one child with the disorder, several
ongoing studies are focusing on the
existence of a genetic link or mutation.
Other scientists are examining
environmental factors like diet, vaccinations
and pesticide exposure.

Part of the rise in incidence may be
attributed to a change in the definition of
autism spectrum disorders. For many years
it was easy to tell children who fit the classic
diagnosis of autism: An inability to relate to
others, poor or no speech, violent or
self-injurious behavior, repetitive or
seemingly meaningless activities. However,
the diagnosis has evolved to include
children who relate fairly well socially but
who have delays in other areas like
language or fine motor skills. (This is
sometimes called pervasive developmental
delay, not otherwise specified or
PDD-NOS.) On the other end of the
spectrum are children who have solid
communication skills but find it difficult to
relate to other people, sometimes
becoming obsessed with a narrow range of
ideas or objects, a disorder known as
Aspergers Syndrome.

But Lutzker said the change in evaluations
cannot completely explain what
professionals are seeing in their offices.

“It’s an interesting dilemma: Is it that we are
more aware of autism or are there truly
more incidents? I’m inclined to lean toward
more incidents just because of the endless
number of children we are seeing these
days,” he said.

Lutzker, a behavioral psychologist, is a
strong advocate of the discrete trial training
method of treating children with autism.
Discrete trial training (also called applied
behavior analysis or ABA), was designed
by Dr. Ivar Lovaas of UCLA in the 1960s
and uses behavior modification with both
positive and negative reinforcement to
shape the child’s response. Other
developmental professionals prefer using
the newer “floor time” therapy. Created by
Dr. Stanley Greenspan, a psychiatrist at
George Washington University Medical
School, this teaching method is
child-directed — the therapist follows the
child’s lead in playing games and
performing activities that enhance the child’s
communication skills. Many autistic children
also receive speech and occupational
therapies.

Working out a successful treatment plan is
one of the many battles that parents such as
the Helfings find overwhelming at times.
Both their boys have different strengths and
weaknesses and each requires a program
that supports their needs. Therapy, including
a home-based ABA program for Nathan
and Greenspan sessions for both, often
takes up eight or more hours a day for each
child. Ironically, both Barbara and Sheldon’s
professional training makes them
well-suited to the task of raising children
with special needs; Barbara has a Master’s
degree in education (including a credential
in special ed) and Sheldon teaches
psychology at local community colleges.

Barbara said the hardest part is dealing
with family and friends who don’t seem to
grasp what life with autism is all about, the
constant toll taken on the family’s time and
emotions and finances as they research
every option for helping their sons. She tells
the story of a friend who called up in tears
because her daughter had missed out on
getting into a gifted class by two points on a
test. Barbara said it was hard not to laugh
because “I wish for one moment that Leland
or Nathan had a problem like that!”

“What it comes down to is our kids are in a
perpetual toddlerhood,” she said. “Their
mental age is not where their chronological
age is; that’s what makes it more taxing for
us as parents. Other parents spend a lot of
time talking about their kids’
accomplishments and what we talk about
may not seem like much. But the things
other people take for granted, we really
appreciate.”

The family has struggled to find their place
in the Jewish community. Currently they are
not affiliated with any synagogue. Barbara
said when Leland was a toddler she joined
a Mommy & Me class at a large
Conservative temple, but was disheartened
by the response of other mothers when
Leland finally attempted to speak.

“He was vocalizing, making these sounds
that weren’t quite words, but it was the first
time he had even tried to talk,” Barbara
said. “And I saw two mothers pull their
children away from him, like it was
contagious. Instead of applauding that this
child was finally speaking, they reacted like
he had a disease.”

To add insult to injury, when Barbara called
to tell the teacher she and Leland were
leaving the class, the teacher asked if she
could tell the other mothers that Leland was
a special-needs child unsuited to the
program. Barbara said the feeling she got
from the experience was that children who
were different posed a threat to the
reputation of the highly touted,
“academically enriched” program. The
rejection, she said, still hurts.

Sheldon is quick to point out that not all the
family’s experiences with synagogues have
been negative.

“There are some good programs out there,”
he said. “But the general population reacts
from fear — what you don’t know might hurt
you. The misnomer about autistic kids is
that they’re crazed and violent, when in fact
they are so locked inside themselves they
would not hurt anyone.”

Dr. Bryna Siegel, author of “The World of
the Autistic Child,” has seen many Jewish
parents during her tenure at both Stanford
and the University of California at San
Francisco. Siegel, who is Jewish, said the
emphasis on education and the high
expectations of parents and grandparents in
our culture makes it more difficult to accept
a diagnosis of autism.

“The problems Jewish families have in
coping with autism is by and large what I
see in most well-educated, upper
middle-class families,” Siegel said. “There
is a much greater sense of disappointment
in having a child with a disability as
opposed to a working-class family. And
there isn’t as much room in the Jewish
community for these children as, say, in the
Mormon community where they are seen as
a chance for family members to grow
spiritually through love and compassion.
Judaism really doesn’t have an outlook like
that.”

Siegel said that in some cultures where
large families predominate, having a
special needs child is less of a burden
because the work can be shared among
more people.

“But except for the Chassidim, Jewish
families are not having a lot of kids. For
those families, this child may be their only
one, and that can be hard,” she said.

The Los Angeles Jewish community has
been slow to respond to the recent surge of
families with developmentally delayed
children. Few programs exist to teach these
children Jewish culture and values. In the
San Fernando Valley, there are special
needs programs at Valley Beth Shalom,
Temple Judea and Kol Tikvah, but except
for VBS, these programs are limited to a
few hours one or two mornings a week. The
standards of admission for Jewish day
schools such as Abraham Joshua Heschel,
automatically eliminate many children with
disabilities, including autism. Other schools
will only take an autistic child if a one-to-one
aide is provided, which may be out of the
financial range for parents already pushed
to the limit by medical treatments.

The University of Judaism, however, recently
established a Master’s degree program for
people interested in working with autistic
and abused children, which will put more
knowledgeable, appropriately trained
teachers out in the Jewish community. For
those already in the field, the Bureau of
Jewish Education, at its recent Early
Childhood Education conference, hosted a
seminar on Autism and Aspergers for
educators along with several classes on
evaluating children for speech and language
delays.

But the Helfings’ best advice to other
parents of autistic children is this:

“Know your child, their strengths and
weaknesses,” said Barbara. “Know the law,
or hire someone who does. The truth is, in a
situation like this the playing field is not
even. To the degree you’re informed about
your child, the disorder, what resources are
available and about your rights is the
degree to which you will be able to help your
child succeed.”