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Study of a rare disease sheds light on cancer
Posted By Viva Sarah Press On March 16, 2011 @ 12:00 am In | No Comments
‘Truly exceptional’ Israeli scientist reveals critical genetic information about ataxia-telangiectasia (A-T) disease and brings home a top American research award.
Over the years, repeated requests for Tel Aviv University professor Yosef Shiloh, to relocate to the United States have always been met with the same answer: “Thanks so much, I appreciate it, but I’m going to stay in Israel.”
As such, one of the world’s foremost researchers of ataxia-telangiectasia (A-T) disease, resides and teaches in Tel Aviv. And he has now become the first Israeli ever to win the prestigious American Association for Cancer Research G.H.A. Clowes Memorial Award. An award that was followed up quickly by news that Shiloh has also won the Israel Prize.
A-T is a severe, debilitating genetic disease that attacks children, causing progressive loss of muscle control, immune system problems and an unusually high rate of cancer. There is no cure yet, but Shiloh’s work has revealed critical genetic data about the disease.
“Dr. Shiloh is an international leader in the study of A-T, and his identification and cloning of the A-T gene provided for the first time a definitive diagnosis for so many who had gone without one,” said Dr. Margaret Foti, AACR CEO.
“This discovery, along with his subsequent work, has played a critical role in increasing our understanding of DNA damage response and repair, which has important implications for cancer and other diseases. Dr. Shiloh is a truly exceptional scientist,” she added.
Shiloh will also receive a $10,000 grant, and in April will address the AACR, the oldest and largest cancer organization in the world.
“I was overwhelmed. 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,” Shiloh tells ISRAEL21c.
Shiloh stresses, however, that the AACR chose him for his work and not his nationality. “They based their considerations on … whether my achievements made a difference,” he says, giving credit also to the 12 research assistants and graduate students who work with him in the Laboratory for Cancer Genetics at the university.
A devastating disease
An estimated one percent of the US population, or about 2.5 million people, may be carriers of A-T, according to the US National Institutes of Health (NIH). In Israel, some 120 families of diverse ethnicities are affected by A-T, a rare multi-system disorder whose victims usually die from respiratory failure or cancer by their early 20s.
Epidemiologists estimate the frequency of A-T as one in 40,000 to 100,000 live births worldwide. But since A-T is commonly misdiagnosed, it is believed that this disease may actually be much more common.
And though there are support groups and charities dedicated to the syndrome around the world, A-T is not as widely known as other inherited illnesses.
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. While thinking about a possible subject for his Ph.D. thesis in human genetics (which he would later receive from the Hebrew University of Jerusalem), Shiloh met a family from the Negev whose four children suffered from the devastating disease. It was then that he decided to focus his research studies on A-T.
“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.”
Identifying the mutated gene
In 1995, Shiloh’s lab identified the A-T gene and successfully cloned it, calling it ataxia-telangiectasia mutated (ATM). Later, his 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. The same defense system also protects the cell from becoming cancerous.
“By finding the gene for A-T, we not only gain tremendous knowledge about a devastating childhood neurological disorder, but also acquire some insights into what makes certain people predisposed to cancer,” says Zach W. Hall, retired director of the NIH’s National Institute of Neurological Disorders and Stroke.
“This unusual finding provides a clue that will help us understand the link between cell division and cell death and reinforces the notion that no disease is too rare to merit full scientific investigation.”
Shiloh echoes Hall: “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.”
As a result of Shiloh’s discovery, A-T can now be detected in the early stages of pregnancy.
Israeli minds and innovation are key
Shiloh, a 62-year-old father of two, is a professor of cancer research in the Sackler School of Medicine at Tel Aviv University; research professor for the Israel Cancer Research Fund; and a member of the American Association of Cancer Research and numerous editorial boards and organizations.
In the early 1980s, Shiloh was a research fellow at Harvard Medical School and The Children’s Hospital of Boston. But unlike many Israeli researchers who go abroad and don’t come back, Shiloh returned to Israel.
This is significant, given that Israel’s rate of academic “brain drain” is the highest in the world – 10 times the rate in Europe.
“The brain drain problem is not new to Israel, but it has intensified in recent years, especially in economics and the sciences,” explains Shiloh.
It’s not for lack of excellence. “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,” he says. “Thanks to our innovation, Israelis have the ability to make the best out of what we have.”
Researchers in Israel have access to fewer resources and grant money. Moreover, the government’s continued budget cuts to higher education in the last decade concern Shiloh and his colleagues.
“We’re really hoping this bad period is behind us. We already are seeing bright new scientists coming back from the US,” says Shiloh. “Israeli minds and innovation – those are the key aspects of the country. 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.”
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