A blog exploring pharmaceutical relationship marketing, emarketing and innovation with a focus on rare disorders.
The convergence of rare disease, digital communications, and pharmaceutical marketing communications

How Technology Will Improve the Future for Rare Diseases

Posted by | 4:12pm on Thursday, April 3, 2014
FacialMetricsPresenting the additiontoRecognyz to the judges_L2RAfrahShafquat-JeremyWilliams-MichaelRogove

It's a new approach to solving today's most challenging problems 

Our collaboration with Global Genes and Sharon Moalem, MD, PhD at H@cking Medicine at the Massachusetts Institute of Technology (MIT) was an unqualified success. The goal of the MIT hackathon’s rare disease track was to develop a tool that would help speed diagnosis of rare diseases. We asked a team of entrepreneurs, software engineers, healthcare professionals, and designers to take on this challenge and they made great strides in just one weekend. The facial recognition software team won top honors in the rare disease track by developing enhancements for Recognyz, a phone-based app created by Dr. Moalem that uses facial metrics to help diagnose rare diseases.

There is still more work to be done. But we are one step closer to having this free tool widely available—and one step closer to solving the challenge of rare disease diagnosis. There was so much excitement around the hackathon—and with good reason. We were watching a process that may change the future, not just for rare disease, but for healthcare in general. It’s a new approach to solving today’s most challenging problems.

It’s Open Source
The biggest differentiator for Recognyz is that the tool is free and the venture is not-for-profit. It is also open-source, which means that the whole community will be coming together in a collaborative and transparent way to help make the tool better. That means the tool can evolve and improve at an extremely rapid pace.

It Adds to Our Knowledge, but Keeps Data Private
The “clinical selfies” created by Recognyz will tremendously add to our knowledge of rare diseases, but only the data is retained, not the photos themselves. This data can be used to further our understanding and improve diagnosis of conditions that have been identified – as well as those that have not yet been studied or named.

It Has Potential Even Beyond Rare Diseases
It was interesting to observe how much commonality there was between the rare disease and global tracks at the hackathon. In both cases, the focus was on using technology to take the burden off specialists, allowing them to focus on more complex problems. Putting technology in the hands of generalists and people who have less disease-specific training can help take the burden off a system that will be asked to adjust to an influx of new patients. This is as important for disease populations that number in the millions as it is for rare populations that number a few thousand. Once again, we are finding that research into rare disease needs has pay offs that go far beyond rare patients.

Dr. Sharon Moalem, the New York Times bestselling author of Inheritance: How Our Genes Change Our Lives—and Our Lives Change Our Genes, sums it all up in one phrase: “The rare informs the common.”

About Wendy White

Since founding Siren Interactive in 1999, Wendy has been recognized as a thought leader at the intersection of niche pharma brands, patient empowerment and online marketing. Her vision for how the internet can facilitate interactions and provide crucial information that patients, caregivers and their healthcare providers previously struggled to find has propelled Siren to the forefront of relationship marketing for rare disorder therapies.

View other posts from Wendy

  • karen carr

    I think facial recognition coupled with family tree or pedigree analysis software along with a literature source like FindZebra would be a triple threat. I am an individual with a rare diagnosis .. Andersen tawil syndrome + which has a common facial gestalt. Even more curious is that my ancestry is French Canadian with descent from almost all of the known founders for genetic disorders in Canada. Frankly I believe in my family we have many genetic issues with signs of muscular dystrophy, Sudden cardiac death. Collagen disorders and so much more. Yet we are having great difficulty getting a genetic analysis done due to insurance and physician issues.

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