Clinical Picture Maker News Archive

Henry is a child with SCN2A-related disorder. In this interview we hear from his mom, Amanda, about Henry's developing communication skills and potential absence seizures, and how she tracks his changes over time and deals with uncertainty about the future.

Expert review and validation is a critical part of our process. In order for the videos in the CPM's Video Database to be useful, we need to ensure that the titles, descriptions, labels, and other metadata attached to videos is accurate and valid. Keith Coffman, a neurologist at Mayo Clinic, is one of the experts who reviews videos for the CPM. 

In this video, Robert, an individual with Angelman syndrome, is brought in by his parents to see Dr. Hutchison, a pediatric neurologist with experience treating patients with Angelman syndrome. According to Robert's parents, he has been experiencing near constant seizures for the past several months.

This observational documentary provides a window into the lives of Kasey, a 14-year-old living with Angelman syndrome, and her mom, Dolores.

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.”