Fellow Yaniv Erlich’s genetic research featured in Wall Street Journal

Whitehead Institute Fellow Yaniv Erlich

Whitehead Institute Fellow Yaniv Erlich’s latest undertaking—to create a comprehensive catalog of Jewish genetic diseases—was featured in Monday’s Wall Street Journal online.

Employing a novel genome sequencing method of his own invention, Yaniv Erlich is currently building a new, comprehensive catalog of Jewish genetic disease-causing mutations. Once compiled, the catalog will vastly improve the accuracy of genetic disease screenings conducted within the Jewish community.

Amy Dockser Marcus of The Wall Street Journal Health Blog writes:

Researchers are tackling an ambitious new project: the creation of a catalog of mutations for Jewish genetic diseases.

The idea is to use advanced technology to sequence all the genes for recessive diseases that are currently known to be associated with people of Jewish ancestry and catalog any mutations that are found. This way, researchers hope to better determine how frequently different mutations turn up in the Jewish population, and possibly discover gene changes that weren’t widely or previously known to lead to diseases.

Some organizations, such as Dor Yeshorim in Brooklyn, N.Y., already screen orthodox Jews before marriage to see if they are carriers for certain recessive genetic conditions, cases in which each parent must contribute a faulty gene for a child to inherit a disease.

Researchers led by Yaniv Erlich, a geneticist at the Whitehead Institute for Biomedical Research in Cambridge, Mass., have compiled around 150 genes that are either mentioned in published papers or in a database kept by the Israeli ministry of health that are linked to genetic diseases.

“We want to focus on all recessive disorders identified in the Jewish population, even if it was just mentioned in one paper, even if we are not sure, anything we can put our hands on as long as it is recessive and had a connection to the Jewish population,” he tells the Health Blog.

Current recommendations for screening for Jewish genetic diseases vary widely, says Dr. Jodi Hoffman, director of the Victor Outreach and Screening Program for Jewish Genetic Diseases at Tufts Medical Center in Boston. For example, the nonprofit American Congress of Obstetricians and Gynecologists recommends that Jews who trace ancestry to Central and Eastern Europe get screened for at least four diseases, including Tay-Sachs disease, Canavan disease, familial dysautonomia — all rare neurological conditions — and cystic fibrosis.

Meanwhile, the nonprofit American College of Medical Genetics and Genomics, recommends these same four but adds another five, and the Victor centers currently suggest a screening panel that includes 19 diseases. The number of diseases that someone gets screened for often simply may boil down to which ones a doctor is most familiar with, Hoffman tells the health blog.

The catalog project grew out of an earlier collaboration that included Erlich, Dor Yeshorim, and Hadassah-Hebrew University Medical Center in Jerusalem, among others, that was published in 2010 in the American Journal of Human Genetics. In the paper, the researchers reported that they found a gene mutation that can lead to Joubert Syndrome Type 2, a rare neurological disease that is prevalent among descendants of the Ashkenazi Jews of Central and Eastern Europe.

In the case of that finding, Erlich says, affected children were born and Dor Yeshorim collaborated with the researchers to search for a mutation the scientists later linked to the disease. The new project sequences samples from carriers.

“We don’t want to have to wait for a child to be affected, a tragedy to occur, in order to ascertain a mutation,” Erlich adds.

View Wall Street Journal article