January 12, 2010, Updated September 14, 2012

Scientists at IBM Israel and the Rizzoli Orthopedic Institute in Bologna, Italy are creating advanced tools to improve diagnosis and treatment plans for hereditary skeletal disorders.



A new project by IBM Israel and an Italian orthopedic institute hopes to better understand rare hereditary skeletal disorders.

Many of us have availed ourselves of the Internet and information technologies (IT) to locate long-lost family members online and fill in the branches on our family trees. Bypassing the leaves and branches and going deep into the roots of the trees, a new Israeli-Italian collaboration is using IT to better understand rare, hereditary skeletal disorders.

The scientists are collaborating on a comprehensive system called BioMedical Imaging Management Solution (BioMIMS) that will collect, classify and analyze family histories of hereditary skeletal diseases. The Italians will work with the “wet” data, while the Israelis will keep their hands dry, dealing only with the images and readouts.

The new technology collates and integrates physical and physiological parameters in a computer program and could be applied to deepen our understanding of many hereditary diseases and conditions, Boaz Carmeli, manager of IT for the healthcare and life science group at IBM Research Haifa tells ISRAEL21c. His team was handpicked by IBM international for its members’ experience and expertise in this particular field.

The idea is that if skeletal imaging, gene data and information about how our genes are expressed can be organized in one place, scientists will be able to create advanced tools to improve their diagnoses and treatment plans. This is especially relevant today, when scientists have more understanding of genetic diseases at the molecular level.

Medical IT makes treatments more accessible

Traditionally, information about rare skeletal diseases such as multiple exotoses, where spurs of skeletal tissue form a hard bumpy mass under a child’s skin, has been confined to hospital basements and databases. The new partnership between IBM Israel engineers and medical staff and scientists at the Rizzoli Orthopedic Institute in Bologna will bring all this data together, to create a platform for early diagnosis and treatment.

The Israeli and Italian teams plan to begin by using their new approach to basic research to advance the treatment of rare skeletal diseases. Because they are less common and affect less people, rare diseases are often neglected by drug companies. However, solutions may emerge as a result of the proposed computer-based integrated approach: “It is applied research,” says Carmeli.

Expected to be complete by 2010, the project organizers hope their work will make treatment for rare skeletal diseases more personalized, faster and less expensive: “BioMIMS will provide us with access to an invaluable collection of information so we can compare data to the records obtained from other patients and family members,” says Luca Sangiorgi, manager of medical genetics at Rizzoli.

“This holds the promise of significantly deepening our clinical knowledge about rare skeletal diseases, helping us to diagnose and treat individual patients more accurately. Bridging the two worlds of information technology and healthcare will help lead the way towards new answers and new cures,” he says.

Established in 1896, the Rizzoli Orthopedic Institute is the second largest institute in the world for the study of rare skeletal diseases. Physicians there see about 150,000 patients and perform about 18,000 surgical procedures every year.

A world research core for healthcare and life sciences

The IBM research team has about 3,000 employees worldwide working on cutting-edge technologies in medicine, nanotechnologies and high-tech.

The Israel center has its own specific expertise: “We are part of IBM Research, but in Israel we are one of the IBM Research cores for IT in healthcare and life sciences – both in the world and also at IBM Research,” Carmeli tells ISRAEL21c. “Dealing with several projects, we are building better solutions for healthcare and life sciences.”

Also working on projects related to disease modeling in hypertension, and for treating HIV patients, the IBM Israel team collects clinical information and applies it to machine learning and algorithms, in a field known as personalized medicine. “In this specific project, we are researching the genetic cause of skeletal diseases and are trying to build a usable tool. The idea would be to turn it into a solution,” says Carmeli. “We are collecting the data [from the Italian collaborators] and are putting it into a coherent format.

“The goal is to make IBM a significant player in this emerging market, and to make IT a thing of the future,” he concludes.

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Jason Harris

Jason Harris

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