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High-Content Drug Screening Key for Treatment of Rare Diseases

Tue, 02/12/2013 - 12:01pm
Tel Aviv Univ.

Image: American Friends of Tel Aviv Univ.Personalized medicine — tailoring diagnostics and treatment according to individual genetics — is a rapidly growing field. Using advanced screening technologies, the dream of offering customized care to each patient is slowly becoming a reality, offering hope to sufferers of rare diseases, who are often left without medical support. But because each disease impacts only a handful of people worldwide, there is no commercial incentive for pharmaceutical companies to fund drug research and development.

Now Tel Aviv Univ. is bridging the gap. The laboratory of Prof. Miguel Weil of TAU's Department of Cell Research and Immunology is home to a new state-of-the-art high-throughput drug screening facility which can apply thousands of drug compounds a day on diseased cells. This enhances the chance of finding a "hit" — when a compound has a positive impact on a sick cell.

The method could dramatically shorten drug development time, Weil explains, adding that a compound being tested for viability is simultaneously checked for toxicity. Considering the critical nature of many of these cases, the quicker an effective treatment can be identified, the better.

Finding a needle in a haystack

Weil was inspired to pursue this field of research after his own son Nir was born with Familial Dysautonomia (FD), a rare genetic disorder of the autonomic nervous system that is prevalent in Ashkenazi Jews. In their research and with the permission of hospital ethics committees, Weil and his team use live cells isolated from tissue samples of patients with FD and Amyotrophic Lateral Sclerosis. First, they compare the diseased cells with healthy ones to identify the biological differences, including various molecular features or markers of disease. Then, they use the drug screening facility to screen thousands of drug compounds against patient cells, searching for a compound that will affect the cellular markers of the disease.

There are two candidate groups of compounds used in screening, explains Weil. One category comprises FDA-approved drugs, which can be used for treatment not long after they are discovered to be effective at the cellular level. The other category includes libraries of unknown compounds deemed potentially viable as drug therapies due to their chemical structure.

But even when scientists have identified the genetic mutation that causes a disease, it doesn't necessarily mean that they understand why. Drug development is like searching for a needle in a haystack, Weil says. "This technology allows you to develop drugs without knowing exactly what you are aiming for, using an unbiased approach to drug screening," he explains.

Drug development for one

Rare diseases are an ideal starting point for personalized medicine development, Weil believes. Because sufferers make up such a tiny percentage of the population, a compound can be statistically beneficial – even if there are only 10 patients. "Using rare diseases as a proof-of-concept will help us to develop useful technologies for personalized medicine in cancer and other more common diseases," he says.

This research is especially critical for Jewish Ashkenazi population, which is at high risk for a total of 19 rare diseases, including FD, Tay-Sachs and Cystic Fibrosis. One in five Ashkenazi Jews is a carrier of a disease. TAU's Cell Screening Facility for Personalized Medicine, established by the Mexican Friends of Tel Aviv Univ., is the first worldwide to deal with drug screening for rare Jewish diseases.

Weil and his team are currently seeking long-term funding in order to continue their lifesaving work, with the goal of establishing a workable platform for developing individualized therapies. The large range of testing that the screening facility allows will eventually help them to tweak compounds to meet a patient's specific biological needs, uncovering much needed treatment options for people like his son Nir, who too often fall by the wayside of mainstream medicine, says Weil.

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