Clinical Picture Maker News Archive

Josh, a 7-year-old living with Angelman syndrome, helps turn out the lights as his mom lights the family's pumpkin.

Video can show nuances in symptoms and behavior that are difficult to communicate through text or still photos. For example, while most individuals with Angelman syndrome have severe speech impairment, which leaves them unable to speak, or able to say only a couple simple words, they often have much stronger receptive language skills. In this illuminating clip, we see how video can show the receptive language skills of Oriel with detail and nuance that written description struggles to capture. 

Shawn Egan talks about his role at FamilieSCN2A Foundation, and the challenges that many individuals with SCN2A-related disorders face in emergency rooms.

Kasey, a child with Angelman syndrome, goes to a music class. Her mom talks about the class and its value to Kasey.

GeneticaLens is inviting families of individuals with SCN2A-related disorders to participate in the Clinical Picture Maker Project. Participating individuals will pilot the prototype of the DAYTool, an online application that guides families on how to record and upload videos documenting their rare disorder. These videos will be added to a database of videos on SCN2A-related disorders to educate clinicians, medical students, and caregivers on the symptoms and challenges associated with SCN2A-related disorders.

The National Center for Advancing Translational Sciences awards Small Business Technology Transfer (STTR) Phase 1 grant to GeneticaLens and partners NYU Tisch School of the Arts, and NYU Grossman School of Medicine. The grant will fund an innovative new project: “The development of Clinical Picture Maker, a novel video platform to aid the diagnosis and treatment of SCN2A-related disorders, and other rare diseases.”

GeneticaLens has completed the pilot of a newly developed prototype of a platform for collecting videos from individuals with rare disorders and their families. The project aims to accelerate the video production of rare disorders and provide new resources for medical education and research.