Prof. Ohad Birk

Prof. Ohad Birk with children in the Negev

Stephen Oryszczuk travels to the Negev to meet geneticists tasked with identifying diseases in Jews and Arabs, saving countless lives

Are you Jewish?” he asks, shaking hands in his office doorway. “No,” I reply, as he ushers me to a seat. “Sorry, I’m not usually that abrupt,” he says, sitting down. “It’s OK,” I say, doing likewise. “There’s not too much to expand on.” Except, it turns out there is.

My dad’s mother is Jewish, so technically he is. Rabbis tell me it’s the wrong parent, so when asked, I say I’m not, but on a genetic level, I obviously have some J-genes in me, as many a ‘non-Jew’ does.Stephen Orys

This is what professor Ohad Birk, head of Israel’s Genetics Institute at Soroka University Hospital in Be’ersheva, wants to know. In the genetic melting pot that is southern Israel, Birk spends his days identifying genetic diseases in Jews and Arabs, saving hundreds of lives and immeasurable heartbreak by doing so.

Where we come from – genetically speaking – is therefore more than just a passing interest to him. Here, where 80 percent of the population are Jews (mainly Sephardi) and 20 percent Bedouin, the genetic mix makes his job fascinating.

Ashkenazi Jews have had a head start – many known genetic diseases have been routinely tested for years. But Birk is yet to see a case of Tay-Sachs because the gene was found, carrier tests were done and cases were prevented. “If you know the gene for a disease, you can stop it from happening,” he says, eyeing up my paternal DNA.

For him and his team at Ben-Gurion University in the Negev, the focus has shifted – to the (predominantly poor) Sephardi and Indian Jews who largely inhabit this corner of Israel, and to Arabs.

This push is the brainchild of the university’s President, professor Rivka Carmi, herself an esteemed geneticist whose work within the Bedouin community led to her identifying 12 new genes and delineating three new syndromes (one of which is named after her).

The first female president of an Israeli university, she co-chairs the UK/Israel Life Sciences Council with professor Raymond Dwek at Oxford University. “To see the most exciting developments in Israel today, look to the Negev,” says Dwek. “What they’re doing out there is remarkable.”

Out here, most Jews are poor and come from places such as North Africa and India. Birk says: “They were thought to have very few known diseases, but we found only recently that there were in fact diseases in these communities that are common, and which have not been tested for and prevented.”

In 2010, he identified the genetic basis of a devastating childhood disease called Progressive Cerebro-Cerebellar Atrophy (PCCA), which can be traced back to the Spanish expulsion in 1492.

 

NHGRI researcher uses a pipette to remove DNA from a micro test tube.

NHGRI researcher uses a pipette to remove DNA from a micro test tube.

Carried by one in 40 Iraqi and Moroccan Jews, PCCA causes the child’s brain to atrophy, so that by the age of one, they are severely disabled, and a year later they are virtually vegetative. Six months after his discovery, Israel began offering free screening for couples.

When both parents are genetic carriers (it’s a recessive disease) they are told of the risk. Most heed the warning, says Birk, who has already seen a huge reduction in the number of PCCA cases coming in.

New discoveries are being made. Late last year, he told the world about another genetic disease he’d found: PCCA2. “It looks exactly the same [as PCCA] clinically, but it’s a totally different mechanism,” explains Birk. “So we’re still having a major impact.” And it’s not just benefiting Jews.

Of the two dozen genetic mutations linked to diseases Birk’s team has identified, most affect Arabs, and in the past few years, screening has reduced the infant mortality rate among Israel’s 250,000 Bedouin by one third.

Let me say that again: Birk and Carmi’s discoveries, and the state’s subsequent provision of carrier testing to Arab families, has cut the number of Bedouin child deaths by a third.

The world’s press ignores this side of Israel. If they paid attention, they’d find that the research has actually shown Jews and Arabs to be genetic brothers, such as when Birk’s team found exactly the same mutations in a Jewish Ethiopian family and an Arab Bedouin family originally from Egypt. “It showed they were related hundreds of years ago,” says Birk. “So you stumble on things that are both interesting and helpful.”

What would help the Bedouin now, he says, is a “change of habits,” given that 60 percent of Arab Bedouin in southern Israel marry their cousins, and 80 percent marry within their tribe.

Yet despite efforts to educate in schools and communities, it still goes on, sighs Birk. “It’s not something Muslim, it’s something in the Arab world,” he says.

“It’s deep within their tradition. It makes the chances of both partners carrying the same mutation very high, which is a great problem for them and a great problem for the Israeli health system.

Good work done, good work still to do, it seems.