DNA patent ruling could aid women

When the Supreme Court decided on June 13 that unaltered human DNA cannot be patented, it was more than a victory for cancer patients and corporate rivals in the field of genetics; it was a reason to celebrate for Dr. Wayne Grody, a professor at UCLA School of Medicine who assisted in the case that the American Civil Liberties Union (ACLU) brought against Myriad Genetics.

“I’ve been involved with this case for about five years, since the beginning, and I’ve been giving lectures on it,” said Grody, 61, director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center.

“Actually, I was about to start another lecture on this [in Portland], when I got to the podium and about 10 people held up their iPhones to show me that the decision had been reached. I was blindsided and had to improvise the rest of the evening. Maybe the timing wasn’t great, but the news absolutely was.”

The court’s unanimous decision overturned U.S. Patent and Trademark Office policy and invalidated current patents on genes, thereby ending the monopoly of certain genetic tests, including those for types of breast cancer and ovarian cancer that affect a disproportionately large percentage of Ashkenazic women.

Until this decision, roughly 20 percent of human genes were patented, according to the U.S. Patent and Trademark Office. This meant that the holder of the patent could effectively prevent anyone from studying, testing or looking at the gene, which caused great concern among many in the medical community, according to Grody. 

“We never felt comfortable with this idea and tried for many years to get around it — receiving numerous cease-and-desist letters from companies unhappy that we were doing medical genetic tests on genes they had patented,” he said.

When a company patents a gene and has an exclusive right to a test related to it, not only can it set the cost of the test as high as it wishes, but it makes it impossible for someone to get a second opinion. Patients must rely on a single test and hope it is done correctly.

“Many people don’t even know you could patent genes and were shocked when they found out it was possible,” Grody said.

This particular Supreme Court case was filed against Myriad Genetics, a company based in Utah. The genes and tests in question were mutation-location tests on the BRCA1 and BRCA2 genes, which act as significant markers for the likelihood of developing certain types of aggressive breast cancer and ovarian cancer.

Because the Ashkenazic gene pool is less varied than that of the general population, due to the historical pattern of marrying within the faith, three mutations within the BRCA1 and BRCA2 genes are nearly five times more likely to appear in Ashkenazic women than in the general population, according to the National Cancer Institute.

Grody, an Ashkenazic Jew himself who was an expert scientific witness in the Supreme Court case and helped craft various aspects of the ACLU’s legal argument, said Myriad Genetics wasn’t targeted because of any problems within its testing record.

“They’re a first-rate lab. We chose Myriad because breast cancer is such a highly visible disease,” Grody said. “However, the price for the full mutation screening is between $3,500 and $4,000 without insurance. Even if you only have to pay 20 percent, it’s still too much for some people. And until recently, they had no other choice but to test through Myriad.”

Often, the tests are used to decide whether a woman will take prophylactic measures to avoid getting cancer — drastic medical procedures such as a double mastectomy (like the one actress Angelina Jolie underwent recently) and removal of one’s ovaries. Both procedures are irreversible, so many women would like to be able to pursue a second opinion.

Now they can. 

Although it will take many years for companies to build the kind of extensive genetic database that Myriad Genetics has, it’s the beginning of a new era for the genetic testing market — one that’s been decades in the making.

“By the end of the trial, which I had the honor of being able to attend, I felt like the justices really felt uncomfortable with the idea of patenting genes,” Grody said. “And although I was relatively confident that they’d rule in our favor, it was a relief to know that, yes, they did truly understand.”

Prenatal whole genome sequencing technology raises Jewish ethical questions

Expectant mothers long have faced the choice of finding out the gender of their child while still in the womb.

But what if parents could get a list of all the genes and chromosomes of their unborn children, forecasting everything from possible autism and future genetic diseases to intelligence level and eye color?

The technology to do just that — prenatal whole genome sequencing, which can detect all 20,000 to 25,000 genes in the genome from fetal blood present in the mother’s bloodstream — is already in laboratories. While not yet available in clinical settings because of the cost, once the price falls below $1,000 it is likely to become common, according to a report by the Hastings Center, a nonpartisan bioethics research institute.

With it will come a host of Jewish ethical dilemmas.

“We need a serious set of conversations about the implications of this new technology,” said Peter Knobel, a Reform rabbi who teaches bioethics at the Spertus Center in Chicago and is the senior rabbi at the city’s Temple Sholom.

How will parents react to a pregnancy destined to produce a child with an unwanted condition? What do parents do when genetic sequencing shows a predisposition for a deadly disease but not a certainty of it? What about diseases not curable now but which may be cured by the time the child reaches adulthood? When, if ever, is the right time to tell a child he or she has a genetic predisposition toward a particular disease?

It likely will be the most contentious social issue of the next decade, predicts Arthur Caplan, director of the Division of Medical Ethics at NYU Langone Medical Center.

”Anyone who thinks that information that could lead to abortion isn’t going to be controversial has been asleep since Roe v. Wade,” Caplan said.

According to Orthodox Judaism's interpretations of Jewish law, abortion is permissible only when the mother’s health is at risk. The Conservative movement agrees, but its position includes other exceptions.

“Our real concern will be massive increases in the number of abortions,” said Rabbi Moshe Tendler, professor of bioethics at Yeshiva University. “You have a young couple, 22, 23, 24 years old, and they don’t plan to have more than two or three children. Why take a defective child? I call it the perfect baby syndrome. The perfect baby does not exist.”

Rabbi Avram Reisner, a bioethicist on the Conservative movement’s Committee of Law and Standards, says abortion by whim is clearly prohibited.

“Judaism is not pro-life,” said Reisner, the spiritual leader at Congregation Chevrei Tzedek in Baltimore. “Jewish law allows abortion. And it is not pro-choice. It is concerned with managing the health of the mother. It does not support abortion as a parental whim.”

The Reform movement, though adamantly pro-choice, has a similar position.

“Abortion should not take place for anything other than a serious reason,” said Knobel of the Spertus Institute, “hopefully in consultation with a religious or ethical adviser.”

As far as Jewish ethics are concerned, prenatal whole genome sequencing has some elements in common with current genetic testing.

Embryos of Ashkenazi Jews routinely are tested for such diseases as Tay-Sachs and the breast cancer genes BRCA — two illnesses disproportionately common among Ashkenazim.

In haredi Orthodox communities where arranged marriages are common, matchmakers routinely consult databases that hold genetic information anonymously to see whether a match would face a genetic obstacle. That practice, and genetic testing during pregnancy, has practically eliminated Tay-Sachs disease in the American Ashkenazi community, according to Michael Broyde, professor at the Emory University law school and a member of the Beth Din of America, an Orthodox rabbinical court.

The difference between prenatal sequencing and current genetic testing is the amount of information and its usefulness. Current tests look for specific genetic disorders. Prenatal sequencing is a fishing expedition, looking at everything.

At present, the information is of limited use. No one knows what 90 percent of genes do, and it usually takes more than one gene to do anything. Furthermore, genes are not destiny: Just because one has the genes for certain diseases, such as coronary heart disease, does not mean one will get it.

“All genetic stuff is probabilistic,” Caplan said.

Some say that raises the question of whether Jews should be undergoing genome sequencing at all.

“Just because you can get the whole genome, why do that?” asked Rabbi Elliot Dorff, chairman of the Conservative movement’s Committee on Law and Standards. “How much do you want to find out and how much do you want to share with the couple, and later with the child? Just because you can doesn’t mean you should.”

The operative question, he notes, is whether it will cure or detect a serious disease.

“With all questions of this type, the law doesn’t ask how something is being done; it asks what we are accomplishing,” Broyde said. “If sequencing makes people healthier, it’s a good thing. If it’s going to make people ill, it’s sinning.”

Knobel says, “We need what I call an ethics of anticipation. We need a serious set of conversations about the implications of using the new technology, about how we can understand the values and ethics and come to grips with what it means in the long term.”

Israeli-led team of scientists discovers longevity gene

A team of Israeli and U.S. scientists has discovered a gene that increases longevity in mammals.

The team, led by Dr. Haim Cohen of Bar-Ilan University’s Mina and Everard Goodman Faculty of Life Sciences, and including researchers from Hadassah Medical Center, the Hebrew University and Carnegie Mellon University, said the discovery increases the likelihood that similar activity can be found in a human gene. The results were published this week in the scientific journal Nature.

A gene from the Sirtuin family, SIR2, when activated by a low-calorie diet, was found to prolong life, according to a news release from Bar Ilan University.

Cohen and his team fed two groups of mice a high-fat diet containing 60 percent more fat calories than average. The mice with the SIR2 gene removed developed the diseases associated with aging, while the other mice remained healthy.

Preservation of the SIR2 family of genes during evolution indicates the importance of the genes in critical life processes. In each organism in which SIR2 has been found, including yeast and worms, the gene regulates lifespan, but this was yet to be proven in mammals. Last year, scientific literature carried many reports on the extent of the SIR2 gene’s involvement in the lifespan. More than 30 research groups debated the issue in the pages of Nature and another leading scientific journal, Science, but no final conclusion was reached.

Kiss’ Gene Simmons: Boycotters are “fools”

Shout it out loud: Gene Simmons thinks Israel boycotters among his rocking colleagues are “fools.”

Simmons, the Kiss co-founder known for his seemingly endless tongue, returned to Israel this week as part of his reality show, “Gene Simmons’ Family Jewels.”

Simmons, born Chaim Witz, left Israel 50 years ago as a child with his mother, and settled in New York.

In an interview with the Associated Press, Simmons blasted rock’n’rollers like Elvis Costello, the Pixies and Roger Waters, who are boycotting the Jewish state because of its West Bank settlement policies and its use of closures to pressure the Gaza Strip in its conflict with its Hamas rulers.

He said they were “fools” for boycotting the region’s only democracy.

“The countries they should be boycotting are the same countries that the populations are rebelling,” he said.

Kiss, a glam-rock band known as much for its outrageous costumes and makeup as its anthemic music, scored huge fame and hits in the mid-1970s with songs like “Detroit Rock City,” “Shout It Out Loud” and “I Wanna Rock and Roll All Nite (and Party Every Day)”.

Can MRI save lives?

In 2003, Leslie Berlin was training six days a week, two hours a day as a figure skater. Two years earlier, while taking lessons with her twin sister, she fell in love with the sport. At 37, she started entering competitions at an age when most professionals hang up their skates.

“It’s something I wanted to do at the amateur level,” said Berlin, a San Dimas resident who competes in her own age group. “I feel like when I’m skating I can do anything. It makes anything else seem easy.”
But Berlin’s life became anything but easy beginning in April of that year.
Her mother, Eleanor Tavris, who had survived a battle with stage-three breast cancer nine years earlier, was vigilant about monitoring the health of her three daughters. When a cancer seminar caught her attention, she invited Berlin to come along.

Tower Saint Johns Imaging:

S. Mark Taper Foundation Imaging Center:

City of Hope Department of Clinical Cancer Genetics:

Tower Hematology Oncology Medical Group:

Israel Cancer Research Fund Los Angeles

After listening to a presentation from a breast radiologist, Berlin began to worry that her annual mammogram and monthly self-exams might not be adequate enough to detect a tumor.
“I was concerned about my family history and that a percentage of malignancies are missed in mammograms,” she said.
She underwent genetic screening and was relieved when her test for a cancer-causing genetic abnormality common among Ashkenazi women came back negative. But Berlin still wasn’t convinced she was in the clear. She had been told she had dense breasts, which can obscure the detection of tumors in mammography and ultrasound screenings, and she wanted to be certain she was cancer-free.

Despite her family history of cancer, Berlin’s insurance company initially fought her request for magnetic resonance imaging (MRI) of her breasts. MRI scans are expensive, ranging from $1,000 to $6,000.
After she challenged the carrier’s decision and won approval for the procedure, Berlin scheduled her test in early April at Cedars-Sinai.
And, indeed, the MRI revealed an aggressive tumor growing inside of Berlin’s right breast.
For young, high-risk women like Leslie Berlin, vigilant cancer screening can sometimes mean the difference between a lumpectomy and the loss of one or both breasts to mastectomy. But research is revealing that mammogram screenings by themselves are not a guarantee of catching breast cancer.

No method of detection is 100 percent effective. Mammograms are thought to be about 80 percent effective in women 65 and older, but the reliability drops to 54 percent in women under 40, according to the American Cancer Society’s Guidelines for Breast Cancer Screening. Factor in dense breast tissue, which in itself is associated with a higher cancer risk, and the reliability of a mammogram drops further.

Breast cancer remains the second leading cause of death from cancer among American women, with lung cancer topping the list.
This year 213,000 women will be diagnosed with breast cancer in the United States, according to the National Cancer Institute (NCI), and 25 percent of women will be diagnosed with the disease in their lifetime. The NCI puts the breast cancer risk at 60 percent to 80 percent for women of Ashkenazi heritage with a family history of breast or ovarian cancer who also test positive for either the BRCA 1 or BRCA 2 gene mutations.

In addition, researchers believe there’s a strong likelihood of as-yet-undiscovered genetic risk factors in the Ashkenazi population that could play a role in breast and ovarian cancer.

Experts recommend that women in such high-risk categories begin mammograms at age 30 or younger and at shorter intervals (e.g., every six months) in order to catch breast cancer in its earliest stages. And MRI is increasingly being recommended as a complimentary screening tool, especially to find invasive tumors, said Dr. Arnold Vinstein of Tower Saint John’s Imaging in Santa Monica.
Whereas film and digital mammography uses X-rays to detect changes in the breast and signs abnormalities, MRI finds abnormal tissue by using magnetic fields to measure the reaction of hydrogen atoms in the body.
Recent studies have backed up the reliability of MRI, which has been shown to catch developing tumors that can be missed in traditional mammography. Its accuracy is generally considered to be 90 percent.

With more doctors recommending MRI scans, the S. Mark Taper Foundation Imaging Center at Cedars-Sinai has seen patient numbers jump from a couple every month to five per day over the last five years, said Dr. Rola Saouaf, chief of the center’s body and cardiovascular section.
Despite the substantially higher cost of MRI, women like Berlin say the peace of mind is worth the expense.

Without the scan, Berlin believes, “they never would have detected it. I had mammograms every year and it never showed up. My oncologist told me if I didn’t have it treated, I’d have had four years to live.”

Medical professionals began turning to MRI for breast cancer 10 years ago, and its use has blossomed in the last five years. In July 2004, a landmark study in the New England Journal of Medicine confirmed that MRI is more sensitive than mammography when it comes to detecting tumors in women with an inherited susceptibility to breast cancer.
Cedars-Sinai’s Saouaf said she was skeptical of the technology when she started at the hospital five years ago.
“I thought there would be too many false positives,” she said, “but I’ve picked up a lot of tumors.”
Saouaf said one of the drawbacks at first was that MRI couldn’t always distinguish between cancer and a benign condition, like fibrocystic breast disease. Now a staunch supporter, she said the technology is improving and the scans are increasingly able to determine such differences.
During the procedure, women lie chest down on a movable bed with their breasts inside two coil-lined cylinders, which emit the radiofrequencies. The bed slides into a tube at the center of a 7-by-7-foot cube, and as the machine prepares to scan it emits a noise many patients have described as a rapid hammering or thumping. Labs will often provide patients with personal stereos to help cut down on the noise, as well as sedatives for those who experience anxiety or claustrophobia.

Medicine Cabinet in the Kitchen

In some families, breast and ovarian cancers take an inordinately fierce toll, striking one generation after another, menacing mothers, daughters, sisters and cousins. And for the women in these families, wondering if and when cancer might strike becomes a daily burden.

Facing Our Risk of Cancer Empowered (FORCE) is a Web site designed for women living with this oppressive uncertainty. FORCE provides information and support to women who may wish to learn — or already know — whether they are at high risk of developing breast or ovarian cancer due to genetic predisposition, family history or other factors. These issues are of particular concern to Ashkenazi women, who are more likely to carry certain genetic alterations associated with increased incidence of breast and ovarian cancers.

While hereditary breast cancer accounts for only 5 to 10 percent of all breast cancer cases, as many as 70 percent of those cases stem from alterations in one of two genes, called BRCA1 and BRCA2. Ashkenazi women have a 2.5 percent chance of having one of the altered genes, compared to about .1 percent of the general population. Over the course of a lifetime, a woman carrying one of the gene alterations may have as high as seven times greater likelihood of developing breast cancer, and as high as 33 times the likelihood of developing ovarian cancer, as a woman in the general population. (Men inheriting one of the genes have a slightly higher likelihood of prostate cancer, and can also pass the gene along to their children.)

Susan Friedman developed FORCE three years ago after learning that she carried the BRCA2 alteration. The Florida veterinarian was 33 years old when she underwent a mastectomy. Eight months after her surgery, she experienced a recurrence in her lymph nodes, requiring a regimen of chemotherapy and radiation.

It was by coincidence that Friedman, who does not have a family history of the disease, read about the high incidence of breast cancer gene alterations among Ashkenazis. "A red light went off in my head," says Friedman, who soon got herself tested. Once she tested positive, she opted to undergo preventive removal of her other breast and ovaries, a procedure which appears to reduce future breast cancer risk by 90 percent.

Acknowledging the difficulty of taking such drastic measures, Friedman says, "I can’t say it was an easy decision, but it was a much easier decision for me than it would be for someone who has never had cancer. There’s no right or wrong answer."

FORCE aims to assist women in making such decisions by giving them information and empowerment. In addition to a message board and chat room, the Web site features a 10-page resource guide with links to information on such topics as how to evaluate medical resources on the Web, the advantages and disadvantages of genetic testing, researching one’s family history and ways to lower one’s risk. It also includes a listing of cancer genetics professionals nationwide.

Friedman coined the term "pre-vivor" to refer to those with a predisposition to cancer. "The decisions they have to make are every bit as agonizing as those for a breast cancer survivor, and their need for support is every bit as valid," she says.

For example, Friedman notes, the decision whether to undergo genetic testing is fraught with difficulties. Depending on a woman’s individual situation, the test may not be able to provide definitive information. Some women may prefer not to know whether they carry an alteration. And those who find out, face dilemmas around informing other family members and risking potential insurance or employment discrimination.

Yet for some, she says, "It can be a huge relief if a woman comes from a family with a BRCA mutation and she tests negative." (Not only would the woman herself be at lower risk, she also would not be passing on the high risk to her children.)

Friedman urges women considering testing — which ranges from several hundred to several thousand dollars — to see a risk assessment counselor or genetic counselor, professionals trained to discuss the complex issues surrounding such a decision.

If a woman does test positive for one of the gene alterations, she faces a number of options, "none of which are ideal," Friedman says. These include careful monitoring via mammography and clinical breast exam; taking tamoxifen, a drug that may prevent the disease; or undergoing preventive removal of the breasts and ovaries. Additional measures can be taken to monitor for ovarian cancer.

While not every woman who tests positive will develop breast or ovarian cancer, she will live with the knowledge that the odds are against her. On the other hand, since hereditary breast cancer accounts for only 5 to 10 percent of all breast cancer cases, those with no family history — and those who test negative — have no guarantee of avoiding the disease. For women at normal risk, experts recommend monthly breast self-exams, an annual clinical breast exam and yearly mammogram. In addition to following those guidelines, it seems the best defense is knowledge.

No News Is Bad News

The Los Angeles Jewish community is harboring a deadly secret.

Thousands of Jews in Southern California, among hundreds of thousands worldwide, carry the gene for a fatal disease that’s as prevalent as Tay-Sachs and just as devastating, but local Jewish leaders have failed to let the public know that the disorder exists — and is now preventable.

One in 30 Ashkenazi Jews carries a genetic mutation responsible for familial dysautonomia (FD), a disorder of the autonomic and sensory nervous systems. It interferes with the body’s ability to regulate itself and its processes; symptoms include inability to feel pain or temperature sensations, wild fluctuations in blood pressure and body temperature, and trouble with chewing, swallowing and digesting food.

Children with FD typically experience developmental delays, physical or cognitive, of varying severity. Their eyes don’t produce tears, and some are at such risk for eye damage that they have to wear protective goggles. Many are fed through gastric tubes implanted in their stomachs to keep them from inhaling the food and liquid they don’t have the coordination to send down the esophagus instead of the windpipe. Any kind of microbe or emotional upset can throw a child into a "crisis" that necessitates a race to the hospital.

Early death, most commonly in one’s 20s, is generally caused by cardiac problems such as heart arrhythmia or a stroke caused by a sudden spike in blood pressure; renal failure, when constant fluctuations in blood pressure are too much for a young person’s kidneys; or pneumonia caused by aspiration of food and drink into the lungs.

FD children are also at high risk for accidents. "They don’t seem to have a good sense of where they are in space," said Sonia Peltzer, a physician with two FD children who is president of FD Hope, Inc., an organization devoted to raising awareness of the disease, raising money to support research, and creating a support network for affected families.

The disease becomes the focus of every household with an affected child. Mavis Feinberg, a Pacific Palisades resident whose grandson has FD, said of her daughter and son-in-law, "Their whole life has become caring for their son, because FD is so invasive in so many areas of their lives. It has a horrible impact on a family."

In a video produced by FD Hope, smiling, gap-toothed 9-year-old Andrew Slaw is shown playing outdoors like any other kid. He’s in fourth grade in suburban Chicago, with no lag in mental abilities and no insurmountable problems with motor skills. But during the past five years, Andrew has been rushed to the hospital "in crisis" some 20 times, sweating and retching, his blood pressure and heart rate dangerously high. When a crisis occurs, "he looks like he wants to crawl out of his skin," said Andrew’s mother, Ann.

When healthy children catch cold or get upset, their systems are able to regulate themselves, but anything that has an inflammatory effect on the body overloads an FD child’s autonomic system. The GI tract shuts down, making it difficult to give a child nourishment and liquids. The subsequent drop in blood sugar or electrolyte imbalance can cause a child to go into seizure.

"We knew Andrew had difficulties from birth," said Ken Slaw, Andrew’s father and FD Hope’s vice president: Andrew coughed and gagged when he was fed and didn’t gain weight as a baby. He had poor muscle tone and balance, although, his father said, "Andrew sometimes found genius ways of compensating for his difficulties." They finally took him to a neurologist when he was 4, after Ken accidentally slammed Andrew’s fingers in a door — and Andrew didn’t feel any pain.

Although Andrew can handle food by mouth, he eventually received a gastric tube so that his parents and medical personnel can get nutrition and liquids into him when he’s in crisis. Peltzer’s daughter Sarah, 3, on the other hand, had a gastric tube implanted shortly after her diagnosis at two months of age and receives all her food and liquids through it.

Children who receive all their nutrition through "g-tubes" are given formulas such as Ensure or Pedialyte, blended foods like milk shakes, and pureed vegetables and fruits, Peltzer said. The kids with the most severe feeding problems lack the coordination to chew and swallow. "It’s like having a mouth full of Novocain," she said.

With the family consumed by day-to-day care and medical emergencies, unaffected children in the family grow up fast. Ann Slaw said their daughter, Emily, 7, "often speaks like she’s 47." While Emily is sometimes "displaced" by Andrew’s illness, she added, "We try to make sure her needs are met."

Ann Slaw thinks living with a sick brother has made Emily "a more compassionate and insightful person." Similarly, Sonia Peltzer says her two older children, ages 6 and 8, who do not have FD, have become "sensitive to issues I don’t think they would have been sensitive to otherwise. They’re going to become really neat people."

First reported in 1949, FD occurs when a child receives a chromosome bearing the genetic mutation causing FD from each of his or her parents. When each parent is a carrier of the gene, there’s a one-in-four chance a pregnancy will result in a child with FD; children who inherit the gene from just one parent don’t have FD but are carriers themselves.

The mutation developed exclusively within the Ashkenazi Jewish community and is one of several diseases associated with that population. The two most devastating Jewish genetic diseases besides FD that occur frequently are Tay-Sachs, a metabolic disorder that attacks the central nervous system, and Canavan disease, which causes degeneration of the brain from earliest childhood. The most common is Gaucher’s disease, carried by one in every 12 Ashkenazi Jews, in which an enzyme deficiency typically causes orthopedic problems and blood abnormalities.

Although the Sephardi community is not as well studied as Ashkenazi Jews, researchers recently discovered the gene mutation for a disease called hereditary inclusive body myopathy, a progressive muscle disorder affecting Middle Eastern Jews in their 20s and 30s.

An enormous breakthrough in FD research came just a year ago, when scientists at Fordham University in New York isolated the genetic mutation that causes the disease. That made it possible for people to be screened for the FD gene, the way many prospective parents of Ashkenazi background get tested for Tay-Sachs. Labs in Israel, New York, Houston, and here in Los Angeles are set up to test people for FD.

The discovery of the gene threw into high gear the efforts of those close to the disease to publicize it. "The Jewish community in general has to jump on the Jewish genetic disease bandwagon and push public education and testing," said Michael Rancer, a library administrator at UC Berkeley and a member of FD Hope’s board of directors whose son, David, died of FD last May at age 11.

Rancer is trying to get his local Federation involved in a joint program with UC San Francisco Medical Center to provide testing and encourage Bay Area Jews to get tested, and he said that the Jewish Federation of Metropolitan Chicago has a "model program" publicizing the prevalence of the FD gene.

At present, there are about 350 youngsters with FD worldwide, but a one in 30 occurrence of the mutation means there are upwards of 20,000 carriers in the greater Los Angeles area.

However, Mavis Feinberg said, Jewish leaders in Los Angeles haven’t seemed interested in getting the word out about FD; she said she hasn’t had a response to queries she’s made to Jewish organizations and half a dozen rabbis. "I don’t think people realize how neglected, ignored, and shunned this Jewish disease is," she told The Journal, adding that one rabbi said to her, "I don’t want to bring it up because I don’t want to upset my congregation."

Dalia Laitin, a genetic counselor at University Children’s Genetics Lab, affiliated with Childrens Hospital in Los Angeles, said that the local Orthodox community is concerned enough about Jewish genetic diseases to offer routine screening to teenagers at Los Angeles yeshivot, but non-Orthodox synagogues don’t seem motivated to spread the word.

When her lab came up with a panel screening for Jewish genetic diseases about a year and a half ago, allowing people to be tested for several disorders at once, Laitin said she tried getting congregations to publicize the program without success. "I contacted several non-Orthodox synagogues, but they were either busy or not interested in publicizing this program to their congregations," she told The Journal.

Along with testing, those involved in the fight against FD work hard to raise money for research, pointing out that research on this disease has implications for people suffering from other forms of dysautonomia, including Parkinson’s disease, autism, panic disorders, and autonomic problems caused by diabetes and high blood pressure.

"Because of the small number of identified individuals with this disease, there is little government support for research," said Sondra Mallow, a Jacksonville, Fla., mother of three FD children. But, she says, "we have hope … that we all live to see the day the disease is eradicated."

Michael Rancer has hope, too, but his is tinged with the knowledge that their cause has a long way to go. "We are years away from a cure," he said. "Although our goal is to make [David] the last child to die from FD, we know that’s not realistic."

For more information about familial dysautonomia, log on
to www.fdvillage.org, e-mail fd.hope.west@verizon.net, or call
Mavis Feinberg of FD Hope at (310) 459-1056. For more information about the
spectrum of Jewish genetic diseases, see the Web site for the National
Foundation for Jewish Genetic Diseases, www.nfjgd.org . To find out how to get tested for familial dysautonomia and other genetic diseases, call University Children’s Genetics Lab at (323) 669-2271.

Parents Sue Over Canavan Test Patent

The families of children with Canavan disease are suing the researchers who found the gene responsible for the illness, using blood and tissue from two children in Chicago and other children who died of the disease. The researchers received a patent for it in 1977. Daniel and Debbie Greenberg of Chicago and other parents involved in the research contend that the patent and a commercial test with strictly enforced licensing has impeded further study of Canavan. The suit, filed in U.S. District Court in Chicago on Oct. 30, alleges that researchers secretly obtained the patent using the genetic information and began charging royalties and restricting the availability of testing.

Defendants include the Miami Children’s Hospital, where the gene was discovered and the test developed, along with the lead researcher, Dr. Reuben Matalon.

“It’s a unique case,” said Laurie Rosenow, an attorney who helped prepare the complaint. “Research participants have charged their rights were violated because they were misused by researchers for financial gain. It could shape future genetic collaborations.”

According to a report in the Chicago Tribune, the families, the New York-based Canavan Foundation and other plaintiffs are seeking to stop Miami Children’s Hospital’s commercial use of the Canavan gene and recover damages of more than $75,000 received from royalties collected for the gene test. The Canavan Foundation was forced to stop offering free genetic screening after being told it would have to pay royalties and comply with other licensing terms.

In a talk at Cornell University last November, Dr. Judith Tsipis noted that Matalon’s work was picked up by laboratories all over the country and the world and was used to develop a DNA-based test that can reliably determine whether an individual, especially someone of Ashkenazi descent, carries a gene mutation for Canavan disease and therefore is at risk for having a child with Canavan disease.

“The early Canavan research sounds like the ideal model of collaboration between families and researchers,” Tsipis said. “Families donated blood and skin samples to Dr. Matalon; however, there was no consent, either verbal or written, regarding the use of their genes by Miami Children’s Hospital — no mention of patents, licensing for profit or anything else that could hinder the public’s benefit from the use of their genes and those of their sick children, either for prevention or eventual therapy or cure.”

Tsipis continued, “Families were therefore both surprised and angry to learn that, without their knowledge or consent, Dr. Matalon and the hospital had applied for and received a patent on the Canavan gene — on ‘their’ genes and those of their children. The patent was comprehensive, covering genetic screening and diagnostic methods and kits, methods of treating Canavan disease and methods of protein or gene therapy for the disease. In short, everything was covered.” Since that time, Tsipis maintains, “the hospital has … restricted access to carrier, diagnostic and prenatal testing for Canavan disease and impeded research.”

One of the parents, Daniel Greenberg, summed up his feelings. “What the hospital has done,” he said, “is a desecration of the good that has come from our children’s short lives. I can’t look at it any other way.”

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

National Society of Genetic

233 Canterbury Drive
PA 19086
(610) 872-7608

National Foundation for Jewish Genetic

250 Park Ave.
New York,
NY 100ll

National Niemann-Pick Disease

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