About GeneticaLens
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, and institutions such as the Seaver Autism Center at the IIcahn School of Medicine at Mt. Sinai, the University of Connecticut, and New York University Post-Graduate School of Medicine as well as individuals with rare and difficult to diagnose disorders and their families.
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Our work began with The Angelman Project, funded by Phase I and II grants from the National Institutes of Health. Angelman syndrome (AS) is a developmental disability, and individuals with AS have severe intellectual disability, lack of speech, and often issues with mobility. GeneticaLens filmed over 350 hours of video for The Angelman Project, including interviews with experts and observational data on 73 subjects its AS in a variety of locations. Throughout the project, GeneticaLens also collected photographs of the subjects at different stages of development, their medical histories, journal articles, and numerous other relevant textual materials. A precise classification system was established in order to organize the video data, categorize it, and link it to the concepts referred to and used by experts. Once assembled in the final database, the clips, documentaries and data, provided a unified picture of Angelman syndrome which would facilitate the diagnosis and treatment of Angelman syndrome.
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“From a physician’s point of view, it’s very useful to me to just see lots of kids, talk to families, from a variety of
situations, and it gives me a much better picture of what Angelman Syndrome is like, what I might expect for the
next child that I have with Angelman. And from a scientific point of view, I think it brings together scientists who
are interested and allows us to fertilize each other’s brains with new ideas.”
-H. Terry Hutchison, M.D. Ph.D., Valley Children’s Hospital, Fresno, California.
situations, and it gives me a much better picture of what Angelman Syndrome is like, what I might expect for the
next child that I have with Angelman. And from a scientific point of view, I think it brings together scientists who
are interested and allows us to fertilize each other’s brains with new ideas.”
-H. Terry Hutchison, M.D. Ph.D., Valley Children’s Hospital, Fresno, California.
Following the completion of The Angelman Project, in 2004, Dr. Deborah Hirtz, MD, Program Director, Division of Extramural Research at NIH/NINDS, suggested that GeneticaLens apply for NIH funding for a project on autism spectrum disorder (ASD) using the SeeSystem, the same expertise and protocols we used in the Angelman project. She said that pediatricians did not know what autism in toddlers looked like and were not able to detect and refer children at risk who came in for their well child visits. Many children were not diagnosed until age 5 or 6 and the optimal timeframe for intensive therapy was missed.
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For this project, eventually called Well Child Lens, we created a large video library of both typically developing children, and children with ASD, a set of educational courses sponsored by the CDC, and a series of tools to help doctors follow screening guidelines more precisely and efficiently. This included a collaboration with Diana Robins, the director at the A.J. Drexel Autism Institute, to create the iM-CHAT, an interactive, video-enhanced version of the M-CHAT, a widely used tool for screening for autism in toddlers. Well Child Lens has been highly praised by families, doctors, and advocacy groups.
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“Just based on preliminary data... we see that the iM-CHAT has been a valuable addition to our autism screening and surveillance routine. The engaging videos, that are part of the iM-CHAT, highlight typically developing children and children at risk, and our physicians have commented that the videos increase the parents’ understanding of the questions. The fact that the iM-CHAT is digital, interactive and automatically scored has certainly streamlined the process.”
–Victoria Levin, MD, Pediatric Associates, Newark, Delaware
–Victoria Levin, MD, Pediatric Associates, Newark, Delaware
It was clear after creating The Angelman Project and Well Child Lens, that GeneticaLens had not only developed a resource for those two disorders, but also the beginnings of a platform technology that could be used for other rare and difficult to diagnose disorders. Through the process of gathering vast amounts of data for those projects, we were also developing a system of gathering and sorting this information. GeneticaLens has since produced projects for other disorders including MPS Type I, MPS Type II, Gaucher disease, familial dysautonomia, and sickle cell disease, and we are continuously working to expand our video documentation to more rare and difficult to diagnose disorders.
In the daily operation of our company, media professionals join forces with researchers, clinicians, therapists, and families to create our videos and content. The family of Wells (picture above) helped us develop a feature documentary and segments on Wells from a few months old to age 6. Well’s parents narrated his videos and as Wells got older he took an interest in photography and even built a Lego movie camera so he could take pictures of us.
The contributions of the experts, the families, the teachers to the SEE System and our projects is the small scale vision of what would happen if the experts and families world-wide could get together and create these films and tools to help others who are not near a major university center of expertise, or who do not have access to the latest research and therapies.
THANK YOU to our families and participants.
