This STTR application proposes a new platform, the Clinical Picture Maker, which aims to facilitate theproduction, organization, and dissemination of video documentation that can improve the diagnosis andtreatment of rare and difficult to diagnose disorders. At present, people with rare disorders and their caregiversoften face a 5+ year search for a diagnosis, which can lead to serious complications and suffering. There aremore than 10,000 identified rare diseases. Clinicians are unfamiliar with most of them and therefore havedifficulty recognizing the symptoms. Text descriptions are available but do not fully convey the visual signs andcomplexities. For nearly 3 decades, GeneticaLens (GL) has produced video databases and tools to help solvethese problems. With SBIR awards on Angelman Syndrome and autism, GL developed a system of filming,editing, validating and disseminating video segments and screening tools, which has helped healthcareprofessionals recognize these disorders and provide appropriate care. This project makes it possible to scalethe system, so that more rare disorders can benefit from video through the creation of the Clinical PictureMaker, a streamlined set of tools for producing video documentation of rare diseases. They include: 1) theDAYTool, a web app that teaches people with rare disorders and their caregivers to use their smartphones torecord and upload videos of symptoms and daily life and 2) the Rare Disorder Video Lexicon (Lexicon), asearchable, ever-expanding collection of videos uploaded using the DAYTool. In Phase I, GL, in partnershipwith New York University, will test the use of the Clinical Picture Maker with a group of parents whose childrenhave rare developmental disorders related to variations in the SCN2A gene. These disorders cause severeseizures, movement disorders, autonomic dysfunction and autism. A group of parents of children with theSCN2A will use the DAYTool to film their children and upload the video to the Clinical Picture Maker database.With guidance from GL and SCN2A experts, NYU graduate film students will edit the video, add key words andexpert interviews, and organize the video into the Lexicon. GL will then evaluate whether the videos uploadedusing the DAYTool will be effective in helping a group of clinicians and residents at NYU's medical school learnto recognize and distinguish between the key symptoms of SCN2A-related disorders. Average number ofcorrectly identified symptoms between a group of clinicians viewing educational videos and a group viewingonly text, will be contrasted using a two-sample t test. With groups of twenty participants, we will have 0.80power to detect Cohen's d of 0.91, corresponding to a large effect size. In Phase II, GL will include other rareneurodevelopmental disorders that cause similar symptoms, creating a comprehensive resource on this groupof disorders and the first iteration of the Lexicon. The long-term goal is widespread use of the DAYTool forpatients and parents to communicate with clinicians and researchers as well as a more complete Lexiconavailable by subscription to clinics and medical schools.
Public Health Relevance Statement: PROJECT NARRATIVE
Individually, each of the 10,000+ identified rare diseases affects fewer than 200,000 people; cumulatively, rare
disorders impact over 25 million Americans and 400 million people worldwide. Clinicians lack experience and
training in rare diseases, rarely see patients with rare diseases, and thus often fail to recognize the symptoms,
and as a result, people with rare disorders and their caregivers can face an harrowing search for a diagnosis
that lasts six to eight years. GeneticaLens and New York University partners are focused on developing the
Clinical Picture Maker, a software platform that will create video documentation of rare diseases on a
worldwide basis by inviting parents, caregivers and patients themselves to log on and create video of their daily
lives, making it possible to develop an extensive database of videos of multiple rare disorders to improve
medical training, diagnosis and treatment.
Project Terms: <0-11 years old>
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