The National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health has awarded a $321,945 Small Business Technology Transfer (STTR) Phase I grant to GeneticaLens (GL) and its partners, New York University (NYU) Tisch School of the Arts and NYU Grossman School of Medicine. The groups will be collaborating with the patient-advocacy organization FamilieSCN2A to develop The Clinical Picture Maker, a platform technology that will facilitate the production, organization, and dissemination of video documentation of rare diseases to improve the diagnosis and treatment of rare and difficult to diagnose disorders. A key innovation: the DAYTool web application which invites parents and families to create and upload videos that document their lives. 

Phase I of this project is focused on developing a video database of individuals with SCN2A-related disorders, which can cause a wide range of symptoms including seizures, movement disorders, and autonomic dysfunction. In Phase II and beyond, the long-term aim of the project is to develop The See System Rare Disease Video Lexicon, a searchable library of videos documenting many different rare disorders. 

NCATS’ STTR program brings together small businesses and major research institutions to develop and scale new healthcare innovations, making it possible to reach patients in need of new approaches and solutions.

There are over 10,000 different rare disorders, which cumulatively impact over 30 million Americans and 400 million people worldwide. Clinicians lack experience and training in rare disorders and have little opportunity to see patients with rare diseases, often failing to recognize the range of symptoms. Video is uniquely suited to fill these gaps in knowledge and improve clinicians’ understanding of rare disorders. Video can show the symptoms of rare disorders in natural settings and can communicate the nuances of symptoms in ways that text descriptions cannot. 

Leah Schust-Myers, the founder and executive director of FamilieSCN2A Foundation, explains, “As parents with no clinical medical experience we became hyper-vigilant and worried that every movement Ben made could be a seizure. It would have been so helpful to have video to see what different seizure types looked like, how they can look really different in different kids. Many clinicians could not recognize Ben’s symptoms either. Clinical Picture Maker will open up the possibility of helping clinicians as well as new parents better interpret what they are observing in our children.” Schust-Myers is a major contributor to this project, and she will help facilitate the campaign to recruit families of individuals with SCN2A-related disorders. 

The principal investigator on the project is Louise Tiranoff, PhD, founder and managing director of GeneticaLens (GL), a small video production company located in Brooklyn, NY. Previous GL projects: The Angelman Project, a video database of over 500 videos to facilitate the diagnosis and treatment of Angelman syndrome,” and Well Child Lens, a database of children 16-30 months with autism, including the Interactive Modified Checklist for Autism in Toddlers (iM-CHAT)”  based on the autism screener - the M-CHAT created by Diana Robins, PhD. 

Lynne McVeigh, Associate Professor of Film & Television at the NYU Tisch School of the Arts, who specializes in children’s television, will be directing the work of advanced Tisch students on Clinical Picture Maker. NYU has provided resources including the Tisch Mega Grant Incubator Award 2019, seed funding from the NYU Mega Grants Initiative, as well as work space and staff support.  Combined with grants from The Bodman Foundation - the result: preliminary data for the STTR project and a web series on rare disorders produced by Professor McVeigh and directed by Dr. Tiranoff, on sickle cell disease (featuring Epiphany, a graduate of Tisch) and familial dysautonomia (featuring Samantha, an individual with FD).

Horacio Kaufmann, MD, the Felicia B. Axelrod Professor of Dysautonomia Research and Director of the Division of Autonomic Disorders, will oversee the work at NYU Grossman School of Medicine for this STTR project. Also contributing to the Clinical Picture Maker, Alejandra Maria Alejandra Gonzalez-Duarte Briseno, MD Assistant Director, Dysautonomia Research Laboratory, Associate Professor, Department of Neurology.  A participant in several films by GeneticaLens on rare disorders, John Pappas, MD, Associate Professor, Department of Pediatrics, and a pediatric geneticist at NYU Grossman School of Medicine, will offer his expertise. The Program Coordinator for the Dysautonomia Center, Lee-Ann Lugg, will also assist in the project

Participating experts from other universities include Anne Berg, PhD, from Northwestern University, Feinberg School of Medicine, who has been directing the SCN2A Clinical Trial Readiness Study; Keith Coffman, MD, Associate Professor of Pediatrics (Child Neurology, Neurodevelopmental Pediatrics,) University of Missouri-Kansas City School of Medicine, who uses video to help experts and patients understand movement disorders in children with an SCN2A diagnosis; Jill Hendrickson, MS, MSSW, LCGC Genetic Counselor, University of Florida Health Aortic Disease Center, who was a principal investigator on the GeneticaLens video project to aid the diagnosis and treatment of Angelman syndrome and Connor Kerns, Associate Professor, The University of British Columbia, an expert in autism, and a member of GL’s Well Child Lens expert team, who is developing cognitive behavioral therapies for youth with ASD and anxiety. 

Web design and development will be by Andrew Gaunt, D&G Design and Development, who designed GL’s Well Child Lens website. GL Associate Producer, Adam DeSantes, will assist. 

Exploratory research on the STTR project was initially funded by a seed grant from the Clinical and Translational Science Institute (CTSI) at NYU, Langone Health.  Members of  CTSI in emergency medicine and other specialties, including Bruce Cronstein, MD, Judith Hochman, MD, and Corita Grudzen, MD, MSHS, FACEP will contribute their extensive practical knowledge and experience to the development of the real-world capabilities of the Clinical Picture Maker.