A year ago I was reading the NY Times and came across an article about Dr. Gurpreet Dhaliwal associate professor of clinical medicine at the University of California, San Francisco. According to the article he is somewhat of a diagnostic genius
The article mentioned he used a .diagnostic tool called Isabel. I called the firm and over the year we have stayed in touch. I learned that the product had great merit but was limited in focus on rare diseases. In fact it was minimal, having only about 250 of the thousands of rare syndromes.
That was shock to me. My limited research lead me to believe that the number was 7000-8000 and growing. So about six months ago I reached out the RPI Center for Open Source Software. An adjunct professor at the school responded and the RPI SUNY Albany Hackathon for Rare Disorders was born. Every month on a Saturday students and professors, who are large data base specialists gather (usually 6 to 10) scour the world for data bases that are relevant to rare disease diagnostics. They are led by a large international software firm (Kitware) who specializes in medical applications, disease detection and analysis. It has already gotten some national recognition.
Recently we identified a free and open source data base within the European Unions organization dedicated to rare diseases, called Orphanet. It contained over 55,000 classifications of rare diseases. When we opened the file we realized instead of the usual 7000-8000 expected it included genetic sub classifications leading to the 55,000 types. The bonus was finding the interactive descriptive glossaries,dictionaries and genomic data that accompanied the file.
Over the ensuing weeks I discussed the find with the diagnostic firm Isabel and was informed this week that they will be phasing in the the Orphanet data bases.
Mark 2/26/14 in your calendar for the 2nd Annual AMC Rare Disease Day Forum.
Happy Holidays to all