About a decade ago, the Nature Communications journal published a study tracing the ancestry of all Ashkenazi Jews to a "bottleneck" of just 350 individuals.
Reported on by The Times of Israel at the time, the study compared the genomes of 128 Ashkenazi Jews to those of non-Jewish Europeans to identify which genetic markers are unique to the former. They discovered that "everyone is a 30th cousin" in the Ashkenazi lineage.
"Our study is the first full DNA sequence dataset available for Ashkenazi Jewish genomes," said Itzik Pe'er, an Israeli computer scientist from Columbia University, who led the study alongside more than 20 medical researchers from Columbia, Yale University, Yeshiva University's Albert Einstein College of Medicine, the Memorial Sloan-Kettering Cancer Center, the Hebrew University of Jerusalem, and other noteworthy institutions.
"With this comprehensive catalog of mutations present in the Ashkenazi Jewish population, we will be able to more effectively map disease genes onto the genome and thus gain a better understanding of common disorders. We see this study serving as a vehicle for personalized medicine and a model for researchers working with other populations."
The purpose of the study was to catalog as many genetic variations from the founding population as possible, allowing clinicians greater access to and understanding of how to conduct disease mapping across various populations.
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Who are the "European" Ashkenazi Jews like Netanyahu?
Concerning Ashkenazi Jews specifically, the research aimed to help doctors identify the disease-causing mutations of this specific people group, which in many ways appears to have passed on in successive generations through inbreeding.
Up until the point of the study's publishing, very little was known about Ashkenazi DNA markers due to there being only a very small subset of them – only about one in every 3,000 letters of DNA had been identified.
The origins of Ashkenazi Jews trace back to the Levant, which is where modern-day Israel is located. Up for debate, though, is who the "European" Ashkenazi Jews really are, these being people like Benjamin Netanyahu who have light skin and are from Eastern Europe, and where their origins are. An analysis of gene databases suggests the original Ashkenazi Jews are half European and half Middle Eastern, having lived in the medieval area about 600 to 800 years ago.
"Our analysis shows that Ashkenazi Jewish medieval founders were ethnically admixed, with origins in Europe and in the Middle East, roughly in equal parts," said Shai Carmi, a post-doctoral scientist who works with Pe'er and conducted the analysis.
"[The] data are more comprehensive than what was previously available, and we believe the data settle the dispute regarding European and Middle Eastern ancestry in Ashkenazi Jews."
The reason why Ashkenazi Jews tend to have more disease-causing gene mutations is believed to be a result of their genetic isolation, which includes inbreeding. As such, many of them have a higher risk of breast and ovarian cancer, as well as Tay-Sach's disease.
To get to the bottom of this, Pe'er and other researchers at the Ashkenazi Genome Consortium (TAGC) conducted in-depth genetic sequencing. They learned that Ashkenazi genomes have almost 50 percent more mutations than European samples, on average.
"TAGC advances the goal of bringing personal genomics to the clinic, as it tells the physician whether a mutation in a patient's genome is shared by healthy individuals, and can alleviate concerns that it is causing disease," another one of the researchers said.
"Without our work, a patient's genome sequence is much harder to interpret, and more prone to create false alarms. We have eliminated two thirds of these false alarms."
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