From the International Herald-Tribune, CNN:

More than a dozen of the world’s first ladies gathered at the UN Friday to call for a global effort to improve research, treatment and acceptance for people with autism.

“Not too long ago, those affected by autism-related disorders were set aside, placed in institutions, or dismissed as untreatable lost cases,” said Ban Soon-taek, wife of U.N. Secretary General Ban Ki-moon. “Today, sadly this reality is still prevalent in some parts of the world.”

From Associated Press, CNN, company press release, Fox News:

Shares of Sequenom Inc., a San Diego biotech company, rose again sharply in premarket trading today after the company announced new results on a prenatal test for Down syndrome that relies on a sample of the mother’s blood.

The company announced yesterday that its SEQureDx test detected Down syndrome accurately in the first and second trimester of pregnancy in about 200 tests with no false positives or false negatives, matching earlier data from another 200 samples.  The company said it hopes to bring the test to market next summer.

Shares jumped $3.39, or 16.5 percent, to $23.95 from $20.56 during premarket training.

Presently available noninvasive prenatal screening methods for Down syndrome can only tell women the statistical risk that their fetus has Down syndrome, but do not offer a conclusive diagnosis of individual pregnancies. Presently, women must undergo amniocentesis or chorionic villus sampling in order to know for sure whether the baby they are carrying has Down syndrome. Amnio and CVS are invasive techniques that both carry a small but significant risk of miscarriage.

Analysts hailed Sequenom’s announcement, with Lazard Capital Markets analyst Sean Lavin raising his price target to $44 per share, up from $34. The company’s stock was trading at around $5 before the announcement of the new technology earlier this year.

The market for prenatal testing is estimated to have multi-billion dollar potential.

See earlier posts here.

See the company’s share price here.

From NPR:

Scientists at MIT are studying Fragile X syndrome, a genetic mutation that can cause intellectual disabilities and autism. They say they may have identified a way to use medication to regulate brain cell connections in people with Fragile X. So far the drugs have only been used in mice, but they are now being tried in humans. One small study found that a single dose of a drug had an effect.

“It’s a dream come true to think that we have the prospect of having gone from really basic science discovery to a potential treatment,” says Mark Bear, who directs the Picower Institute for Learning and Memory at MIT.

The research has been funded in part by a group that was started by parents of a young man with Fragile X.

From the Denver Post, Rocky Mountain News and 9News-TV in Denver:

Retired cable television executive John Sie and his wife, Anna, have announced a commitment of $34 million to create the best research facility in the world to study Down syndrome. The Sies are grandparents to five-year-old Sophia, who has the condition.

The institute will be located at the University of Colorado’s Anschutz Medical Campus in Denver, and will be a combined venture involving CU and Denver Children’s Hospital.

“Four and a half years ago, we found our life mission when we knew Sophia was going to be born with Down syndrome,” Sie said of himself and his wife, Anna.

Neurologist William C. Mobley will serve as the executive director of the Institute.  Mobley most recently served as Chair of the Department of Neurology and Neurological Sciences and the Director of the Center for Research and Treatment of Down Syndrome at Stanford University.

Mobley said eradicating the effects of Down syndrome is a worthy goal, but he tempered expectations a bit.

“That bold position is something we should aspire to,” he said, but added he was more comfortable with the idea that in 10 years scientists will understand a lot more about what can be done about the most negative aspects of the disorder. “We’re going to be hopeful and realistic at the same time,” he said.

AP/Washington Post:

The National Institute of Mental Health (NIMH) has announced the cancellation of a study of chelation, a controversial treatment for autism. Funds for the study would be better used testing other potential therapies for autism and related disorders, the NIMH statement said.

Critics had called the experiment unethical because it subjected children to the risk of harm. The study had previously been suspended after a drug used in chelation had been linked to lasting brain problems in rats.

Chelation is a process that removes heavy metals from the body and is used as a treatment for lead poisoning. Many parents of children with autism have sought it out as a therapy based on the unproven theory that mercury in vaccines triggers autism.

See earlier posts:

• ‘Fringe treatment could get federal study’ — AP
• Doctors alarmed by availability of OTC chelation agents — Los Angeles Times
• Charges dropped in chelation death of boy with autism – AP

In the Philadelphia Inquirer, an interview with vaccine expert Paul Offit, whose new book defending the safety of vaccines is already generating heat. It’s called “Autism’s False Prophets: Bad Science, Risky Medicine, and the Search for a Cure.”

Offit is director of the Vaccine Education Center at Children’s Hospital of Philadelphia and a leading expert on infectious diseases. He gets regular hate mail as the public face of the majority in the scientific and medical communities who agree there is no evidence connecting vaccines and autism-related conditions.

Offit doesn’t think any of his critics mean him real harm, though he was rattled once when a caller knew his children’s names and where they went to school.

“We put a new security system on our house as a way of celebrating the launch of this book,” Offit said during an interview in his office. “Which I think most authors don’t do. Maybe Salman Rushdie.”

Offit worries that parents will choose not to vaccinate, allowing for a resurgence of long-forgotten diseases.

See earlier posts here and here.

(Photo from Philadelphia Inquirer)

Writing in the Boston Globe, Jonathan D. Moreno and Rick Weiss say the Republican platform committee has gone beyond the Bush administration’s policy and now calls for a ban on the creation of or experimentation on any human embryos for research purposes.

The irony of the platform committee’s position, they say, is that stem cell scientists this year made major progress in understanding Down syndrome, which affects Palin’s youngest child. The scientists say their research makes it possible to envision treatments that could be helpful to people with Down syndrome. An excerpt:

Do McCain and Palin appreciate that the new research in diabetes and Down syndrome, not to mention similar recent advances for other diseases, simply could not have proceeded without the lessons being learned from embryonic stem cells? Apparently their party’s platform writers don’t.

So who’s in charge of Republican policy on this important question, and what exactly would the policy on stem cell research be in a McCain presidency? These are questions worth asking this fall.