From start to finish, the vibrant, melodic short video, "PRISMA Library of Life - Autism, Genetics and Genetic Testing," was a passion project for Daniel Moreno De Luca, M.D.
An assistant professor of psychiatry and human behavior who serves as an attending psychiatrist at Bradley Hospital's Verrecchia Clinic for Children with Autism and Developmental Disabilities, Moreno De Luca leads the PRISMA (Precision Medicine in Autism) Research Group, based at Brown and Lifespan. The group seeks to understand how rare genetic changes in people with autism and other neurodevelopmental and psychiatric conditions can inform health care.
Commissioned as part of PRISMA's outreach efforts and piloted with families in Moreno De Luca's genetic testing clinic at Bradley, the video — available in both English and Spanish — features a blue bear named Bo voiced by Moreno De Luca with a sidekick named DiNA. Bringing together the expertise of Molly
Goldman, genetic counselor at Bradley Hospital, and building on key advice by RI’s The Autism Project, the video deploys the metaphor of a library's encyclopedia, filled with twenty-three sets of books representing all chromosomes in the genome, to describe how small genetic changes can lead to autism. Moreno De Luca, who wrote the script, says the video is meant to kindle conversations about genetic testing, which families can revisit at home.
"We've had kids sit throughout the whole thing, which is always a feat," he says with a laugh, adding that the open-access video, available on YouTube and his research group's website, is intended to be a useful tool for other clinicians, as well. "We would love the videos to spark discussion about genetic testing beyond Brown and Bradley, as this key part of the workup for people on the autism spectrum does not happen too often, leading to potentially missed opportunities to improve the health care they receive."
Manuel García Plata and Wilson Cáceres, animation artists from Moreno De Luca's hometown in Colombia, created the lush aesthetic. The video's sound designer, Juan Fernando
Arango, incorporated Andean-inspired music in a scene on Fragile X Syndrome, which uses metaphoric imagery of a torn page in the shape of a mountain to describe the genetic disorder, one of the many genetic causes of autism. A musician himself, Moreno De Luca wrote a song about autism that's featured in the score, and which he released along with a brief essay in JAMA last year.
The videos aren't mere translations, either; they're stand-alone works with colloquialisms and text in both Spanish and English, with one notable exception: To illustrate a segment on exome sequencing that worked in both languages, Moreno De Luca borrowed from a third one, Icelandic, paying homage to one of his favorite bands, Sigur Rós — one of several "Easter eggs" he tucked throughout the videos, he says, including a nod to the film, Back to the Future.
Moreno De Luca says he wanted the videos to be fun and engaging while remaining true to the experiences of people with autism, including sensitivities to sounds, light, and texture.
"We appreciate people for who they are and where they're at," he says. "We really wanted to convey the message that there are many ways to live a fulfilling life, no matter your genetic makeup, and that stories full of meaning can be written in the background of genetic differences. The goal is to help people build on, and achieve, their maximum potential."
Visit precisionmedicineinautism.org to learn more about the research group and sign up for its newsletter, available in English and Spanish.