GeneticaLens has completed a pilot study on a prototype platform called the DAYTool. The DAYTool guides individuals with rare disorders and their families to record and upload videos documenting their daily life, symptoms, and challenges. The DAYTool provides guidance on how to record high quality video, and also gives the users prompts that encourage them to document different aspects of their day and how different activities are impacted by their diagnosis. The project is being developed with the aim of accelerating the production of video documentation of rare disorders, which can be a valuable resource for medical education and research.

The DAYTool offers a novel approach to the creation of videos for rare disorders. The platform harnesses the ubiquity of modern smartphone cameras and internet connectivity to democratize the documentation of rare disorder, giving rare disease families—who are in many senses experts who know more about their disorders than anyone else—the power to share their experiences and insight with medical students, clinicians, and others all around the world. Another advantage over traditional video production is that families can record videos at any time throughout their day, and in any location, capturing symptoms that would likely be missed by a video crew or in a doctor’s visit. The CPM streamlines the methods developed during GL’s previous NIH-funded projects on Angelman syndrome and autism spectrum disorder.

Five families of children diagnosed with SCN2A-related disorders participated in the pilot. The aim of the pilot was to assess the ability and interest of parents of children with SCN2A to record videos demonstrating different aspects of their daily life. Parents were recruited with the help of the FamilieSCN2A Foundation, a patient advocacy organization of families of children diagnosed with an SCN2A genetic mutation that provides support, promotes awareness and raises funds for research. SCN2A-related disorders can cause a wide range of challenges for individuals diagnosed with them, including seizures, movement disorders, autonomic dysfunction, and autism spectrum disorder.  

On average, the families who participated in the pilot upload 9 videos through the platform. Participants described high levels of enthusiasm for sharing their videos and that they are very likely to return to upload more videos.  This exploratory project was funded through a seed grant from the Clinical and Translational Science Institute (CTSI) at New York University Langone Health.  In a letter of support for the project, the CTSI team wrote: “Too often students, trainees and faculty in the medical profession read of genetic diseases as academic subjects but the impact of these diseases on patients and their families remains obscure… We believe that it is critical to include the voices of patients and their families in describing the toll of genetic diseases on those who are so profoundly affected. We do look forward to working on this exciting, important and groundbreaking project that has the potential to improve the lives of people and their families living with rare genetic diseases.” 

GeneticaLens is now applying to the National Institutes of Health for further funding to develop the project and expand its scope.