The system will also build family history records, collect and classify, allowing research into advanced pedigree analytics. Because the disease is hereditary, it's critical to have access to data for all patients that are connected to the same pedigree. For example, when a child is being diagnosed, it's vital for physicians to see observations and clinical/genomic information from the parents, aunts, uncles, and other close relatives. The new system, from IBM Research - Haifa, will take the pedigrees and automatically assign them to groups based on common characteristics. These groupings have the potential to help doctors identify new research directions to better understand the correlation between genotype and the observable characteristics (phenotype) of the disease.

"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," noted Luca Sangiorgi, Manager of Medical Genetics at Rizzoli. "This holds the promise of significantly deepening our clinical knowledge about rare skeletal diseases, helping us 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."

"This project demonstrates how new information technology solutions are allowing medical personal to make more accurate diagnoses and select treatment programs that have a much higher potential for success," noted Boaz Carmeli, manager of IT for healthcare and Life Science group at IBM Research Haifa. "Integrating information from various sources, and realizing the vision of interoperability and cooperation between healthcare organizations, is a surefire key to smarter healthcare solutions and better insight into the treatment of diseases."

SOURCE IBM