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Tel Aviv professor Yosef Shiloh's study of an uncommon genetic disease unlocks a mystery behind cellular DNA damage, an important link to cancer. 

Prof. Yosef Shiloh of Tel Aviv University recently became the first Israeli ever to win the prestigious G.H.A. Clowes Memorial Award from the American Association for Cancer Research (AACR). He will receive a $10,000 grant and will address the AACR, the oldest and largest cancer organization in the world, in April.

Shiloh is renowned for his research on ataxia telangiectasia (A-T), a rare neurodegenerative inherited disease that leads to early death. This research is also relevant to an understanding of a mechanism behind cancer.


"Professor Shiloh is an international leader in his field and an extraordinary scientist," says AACR director Dr. Margaret Foti. "His work has launched a scientific revolution and opened up new horizons in the understanding of how the living cell copes with DNA damage, which is among the main factors in cancer."

"I was overwhelmed," says Shiloh of the award announcement. "Given the fantastic science being done in the US, I'm sure there's a long line of worthy scientists deserving of this award. I didn't think they would give it to a non-American."

Staying in Israel

Shiloh began exploring A-T in 1977, after meeting a family from the Negev whose four children suffered from the disease. Over the course of his research career, Shiloh made several discoveries that contributed to understanding the syndrome. Most importantly, he identified the defective gene that causes it.

And though he has often been offered positions abroad, Shiloh is first and foremost an Israeli scientist. "I've been offered very nice positions in the US. [I always say] 'Thanks so much, I appreciate it, but I'm going to stay in Israel,'" he says.

The 62-year-old scientist is a professor in cancer research in the Sackler School of Medicine at Tel Aviv University; research professor of the Israel Cancer Research Fund; and member of the American Association of Cancer Research and numerous editorial boards and organizations. He regularly flies to the United States to take part in research conferences and lectures and sees firsthand the monetary difference between grants received by researchers in Israel and those abroad.

However, Shiloh notes, "Israeli science and research is top notch. The fact that we can do good science and get these [international] awards means that the quality of science in Israel is excellent. Thanks to our innovation, Israelis have the ability to make the best out of what we have."

Israeli scientists in the forefront

This may be the first time an Israeli scientist has won the AACR honor, but the country's science institutions are used to international accolades. One example is the Weizmann Institute of Science, where Shiloh's daughter studies, which was chosen as the best university in the world for life scientists to conduct research.

Shiloh says the award has even greater significance for his students and colleagues. He oversees 12 research assistants and graduate students in his David and Inez Myers Laboratory for Cancer Genetics at the university.

"Other than being thrilled, it simply means that what we're doing here is good and can make a difference. It means a lot to Israeli science," says Shiloh. He adds that the award is a "message to my colleagues and to our students that the scientific community at large recognizes the work being done in Israel. "Even when you compete with much stronger labs, even with our political instability, things can be done in Israel and the international community recognizes it," says Shiloh.

Giving hope through science

In 1977, when Shiloh first started investigating A-T and the defect in the DNA damage response that leads to this disease, even doctors questioned his purpose. But seeing the despair that the patients and their families were dealing with, Shiloh marched on.

"I think that we, the medical and scientific community, owe these families the same work that we invest in more common diseases. For them it doesn't make a difference if it's a common disease or a rare one," says Shiloh. "It was clear just from looking at these patients that if we understand this disease we'll understand the implications in many areas of science."

In 1995, Shiloh's identified the A-T gene and successfully cloned it, calling it ataxia-telangiectasia mutated (ATM). The identification of the ATM gene revolutionized the field, opening many new avenues of inquiry and research. Shiloh's lab and others found that this gene encodes a protein (also called ATM) that controls an intricate defense system against specific types of DNA damage - one of the major threats to cellular life. This defense system also protects the cell from becoming cancerous.

Shiloh's work enabled detection of the disease in the early stages of pregnancy and paved the way to understanding the defective DNA damage response underlying it. "Our great hope is that understanding the complex defense mechanism will enable new ways of treating the disease and other diseases caused by failures in our defense from DNA damages," Shiloh says.

In Israel, A-T disease affects about 120 families - Jews of North African origin as well as Palestinian, Druze and Bedouin families. Epidemiologists estimate the frequency of A-T as one in 40,000 to 100,000 persons worldwide. A-T patients usually die from respiratory failure or cancer by their early 20s.

Shiloh says there is more awareness about A-T today than 30 years ago when he started his research. "Today people recognize that these rare diseases are worth attention," says Shiloh. "Mining these diseases, a lot can be gained about basic scientific knowledge that has implications for many [other] diseases." 

And while there is still no cure for this devastating genetic disorder, A-T patients around the world have new hope for a brighter future, with scientists like Shiloh behind the microscope.