Monthly Archives: March 2014

ATLANTA Fighting hereditary disease among Jews is the aim of a multi-state public health initiative launched today, called JScreen. The JScreen program (www.jscreen.org), is a non-profit, community-based public health initiative managed by Emory University School of Medicines Department of Human Genetics. It provides at-home genetic screening and private counseling for people with Jewish lineage to determine their risk for hereditary diseases that could be passed to their children.

JScreen is a collaboration among clinical geneticists, socially minded businesses and nonprofits to provide everyday people with a ready access point to cutting-edge genetic testing technology, patient education and genetic counseling services.

Todays geneticists have identified genetic markers for 19 genetic diseases that are more common in the Jewish-Ashkenazi community, including Tay-Sachs and Canavan disease. The carriers are healthy but they can pass the diseases along to their children. Couples who are both carriers can risk unknowingly having children with one of these diseases. JScreen also offers an expanded panel, useful for couples of mixed descent and interfaith couples, which screens for a total of 80 diseases.

By leveraging advances in genetic testing and online education that allow people to be screened in the comfort of their homes, we are removing barriers to allow more people to be screened, said Patricia Zartman Page, JScreen senior director at the Emory School of Medicines Department of Human Genetics.

JScreen makes testing for common genetic diseases simple providing an easy-to-use at-home saliva test that gives people who are planning to have children an unprecedented understanding of their own genetic makeup and risks relating to their childrens health. If a person or couples risk is elevated, genetic counselors from Emory University School of Medicine will privately address their results, options and resources to help ensure a healthy pregnancy and healthy baby.

Most of the time, we are able to reassure couples that their future children are not at increased risk for these devastating diseases, said Karen Arnovitz Grinzaid, JScreen senior director at the Emory School of Medicines Department of Human Genetics. When we dofind a carrier couple, we offer a variety of options to help them have healthy children. Without screening, the couples would not have known they were at risk.

For more information, visit http://www.JScreen.org.

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JScreen public health initiative fights Jewish genetic diseases

See Inside

A look at some of the most promising medical devices now in development

Photographs by Dan Saelinger

Over the past few years researchers have taken advantage of unprecedented advances in biology, electronics and human genetics to develop an impressive new tool kit for protecting and improving human health. Sophisticated medical technology and complex data analysis are now on the verge of breaking free of their traditional confines in the hospital and computer lab and making their way into our daily lives.

Physicians of the future could use these tools to monitor patients and predict how they will respond to particular treatment plans based on their own unique physiology, rather than on the average response rates of large groups of people in clinical trials. Advances in computer chip miniaturization, bioengineering and material sciences are also laying the groundwork for new devices that can take the place of complex organs such as the eye or pancreasor at least help them to function better.

2014 Scientific American, a Division of Nature America, Inc.

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Tomorrow's Medicine

The breakthrough might set up another showdown about cloning for therapeutic purposes

OHSU Photos

From Nature magazine

It was hailed some 15 years ago as the great hope for a biomedical revolution: the use of cloning techniques to create perfectly matched tissues that would someday cure ailments ranging from diabetes to Parkinsons disease. Since then, the approach has been enveloped in ethical debate, tainted by fraud and, in recent years, overshadowed by a competing technology. Most groups gave up long ago on the finicky core method production of patient-specific embryonic stem cells (ESCs) from cloning. A quieter debate followed: do we still need therapeutic cloning?

A paper published this week by Shoukhrat Mitalipov, a reproductive biology specialist at the Oregon Health and Science University in Beaverton, and his colleagues is sure to rekindle that debate. Mitalipov and his team have finally created patient-specific ESCs through cloning, and they are keen to prove that the technology is worth pursuing.

Therapeutic cloning, or somatic-cell nuclear transfer (SCNT), begins with the same process used to create Dolly, the famous cloned sheep, in 1996. A donor cell from a body tissue such as skin is fused with an unfertilized egg from which the nucleus has been removed. The egg reprograms the DNA in the donor cell to an embryonic state and divides until it has reached the early, blastocyst stage. The cells are then harvested and cultured to create a stable cell line that is genetically matched to the donor and that can become almost any cell type in the human body.

Many scientists have tried to create human SCNT cell lines; none had succeeded until now. Most infamously, Woo Suk Hwang of Seoul National University in South Korea used hundreds of human eggs to report two successes, in 2004 and 2005. Both turned out to be fabricated. Other researchers made some headway. Mitalipov created SCNT lines in monkeys in 2007. And Dieter Egli, a regenerative medicine specialist at the New York Stem Cell Foundation, successfully produced human SCNT lines, but only when the eggs nucleus was left in the cell. As a result, the cells had abnormal numbers of chromosomes, limiting their use.

Monkeying around Mitalipov and his group began work on their new study last September, using eggs from young donors recruited through a university advertising campaign. In December, after some false starts, cells from four cloned embryos that Mitalipov had engineered began to grow. It looks like colonies, it looks like colonies, he kept thinking. Masahito Tachibana, a fertility specialist from Sendai, Japan, who is finishing a 5-year stint in Mitalipovs laboratory, nervously sectioned the 1-millimetre-wide clumps of cells and transferred them to new culture plates, where they continued to grow evidence of success. Mitalipov cancelled his holiday plans. I was happy to spend Christmas culturing cells, he says. My family understood.

The success came through minor technical tweaks. The researchers used inactivated Sendai virus (known to induce fusion of cells) to unite the egg and body cells, and an electric jolt to activate embryo development. When their first attempts produced six blastocysts but no stable cell lines, they added caffeine, which protects the egg from premature activation.

None of these techniques is new, but the researchers tested them in various combinations in more than 1,000 monkey eggs before moving on to human cells. They made the right improvements to the protocol, says Egli. Its big news. Its convincing. I believe it.

Continued here:
Patient-Specific Human Embryonic Stem Cells Created by Cloning