About

Background

Individually, each of the 10,000 identified rare disorders affects fewer than 200,000 people, yet cumulatively, rare disorders impact more than 400 million people worldwide. Clinicians have few chances to see rare disorders, and may fail to recognize them, leading to late diagnoses and improper or no treatment.

The Power of Video

Video documentation is uniquely suited to meet these needs. Video can show the symptoms of rare disorders in natural and real settings and can communicate the nuances of symptoms in ways that text descriptions cannot. Video can be paused, slowed down, sped up, and re-watched to emphasize and isolate subtle and complex characteristics of symptoms and behaviors. Video also brings viewers virtually face-to-face with people living with the disease, allowing them to see the disorder’s impact on their quality of life and daily functioning. This makes video a valuable tool for gaining significant insight into a disorder. However, there are currently few video resources available on rare diseases.

For nearly 3 decades, GeneticaLens (GL) has produced video databases and tools to help solve these problems. With Small Business Innovation Research awards from the NIH for projects on Angelman Syndrome and autism, GL developed a system of filming, editing, validating and disseminating video segments and screening tools, which has helped healthcare professionals recognize these disorders and provide appropriate care.

Learn more about the power of video on our homepage. Scroll down the page to see what Clinical Picture Maker videos can show. 

Current Project: Developing the Clinical Picture Maker with SCN2A-related disorders

The aim of our current project is to make it possible to scale the system, so that more rare disorders can benefit from video through the creation of the Clinical Picture Maker, a streamlined set of tools for producing video documentation of rare diseases. The Clinical Picture Maker is comprised of DAYTool, a web app that teaches people with rare disorders and their caregivers to use their smartphones to record and upload videos of symptoms and daily life, and the See System Rare Disease Video Database, a searchable, ever-expanding collection of videos uploaded using the DAYTool.

We are currently in Phase I of the project, which is supported by a Small Business Technology Transfer grant from the National Center for Advancing Translational Sciences. With our partners at New York University’s Grossman School of Medicine and Tisch School of the Arts, we are assessing the effectiveness of patient and parent-recorded videos in helping medical students, clinicians, researchers, and others better be able to identify and understand the symptoms of SCN2A-related disorders. Our close collaboration with FamilieSCN2A is critical to enabling this development, and creating a powerful base for future research.

In Phase II, we will continue to develop the DAYTool and Rare Disease Database features, and expand the database to include additional rare neurodevelopmental disorders. This project aims to engage rare disease families-who are already on the front lines of advancing research and interventions for rare diseases-to directly contribute to the effort of expanding video documentation and visual characterization of these disorders and put their voices and experiences at the center of diagnosis, research, and treatment. This input will catalyze new avenues for research on rare diseases and the development of new treatments, which will ultimately improve the health outcomes and quality of life for individuals with rare diseases.

Who We Are

Since 1995, GeneticaLens has developed a wide spectrum of services to deliver high quality media content to the medical community and families it serves and to bring the experts and families together – to share their experiences, and research. Our team includes filmmakers, internet technologists, experts in pediatrics, neurology, and other disciplines.

To develop the Clinical Picture Maker, GeneticaLens is collaborating with the FamilieSCN2A Foundation, as well as New York University's Tisch School of the Arts and Grossman School of Medicine.