About the Participants

The Rare Diseases Clinical Research Network Angelman Syndrome Consortium Principal Investigator: Wen-Hann Tan, BMBS

The Consortium consists of 6 study sites across the country (San Diego, Houston, Nashville, Cincinnati, Greenwood, Boston).

(http://www.clinicaltrials.gov/...) Consortium researchers are currently conducting the Angelman Syndrome Natural History -- clinical studies on Angelman syndrome. Since March 2006, a total of around 270 children and adults with Angelman syndrome across a wide age range have enrolled in the Natural History study. In this study, each subject is seen at one of the study sites once a year during which an updated medical history is obtained and a physical examination is performed. A licensed child psychologist performs a developmental assessment; a formal assessment of autism and an EEG is obtained every other year. The aim of the Natural History study is to help investigators learn more about the medical complications as well as the developmental and behavioral profile of individuals with Angelman syndrome across all age groups, with the long-term goal of being able to provide better care for these individuals and to develop effective treatments, which are presently limited to supportive (palliative) therapy.

Genetica Lens has developed a video enhanced platform – the SEE System -- our proprietary mix of technologies, including video documentation, and interactive, web based display functionalities – all used to create assessment and evaluation tools, educational modules, and patient/family support resources. The SEE System facilitates the understanding of disease manifestations of these disorders through a unique system of video documentation, integrated with a searchable system of metadata – to provide targeted searches and correct results quickly and efficiently, while accessing hundreds of hours of video.

Using protocols developed in the creation of the Angelman Project, GeneticaLens began to develop projects, databases, and continuing medical education courses for other disorders including MPS1, MPSII, Gaucher – projects funded by Genzyme Corporation and Shire Pharmaceuticals. Further, GeneticaLens received NIH SBIR Phase 1 & 2 grants to develop ASDRA (Autism Spectrum Disorder Risk Alert) a multi-media screening toolkit for autistic spectrum disorder, to facilitate the early detection of autistic spectrum disorder by providing parents and non-medical professionals a means of screening children for autistic behaviors. This project will be released as SeeAutism.com in the first quarter of 2013. (http://www.asdraonline.com/GeneticaLens/...)

As these projects were developed, a unified system for documenting rare and difficult to diagnose disorders emerged – a pattern of practice and approach became apparent. Even though the disorders we filmed and documented were quite different, there were certain types of video that were needed by all: filming of symptoms and behaviors, comparing changes over time and between different disorders, interviews with families and experts. Further, as technology improved it became possible to catalogue and categorize clips and documentaries into a very fine-tuned system, easily searchable and accessible. An assessment tool the iM-CHAT was developed – based on a widely used assessment known as the M-CHAT, and the potential was quickly evident… now parents could see videos of the behaviors being examined so when they were asked – Does your child point to request – they could see a video showing that specific behavior and answer the question more accurately.

These video resources and tools, with similarly applied approaches for very different disorders, became known as the SEE SYSTEM, an expandable database of these rare and difficult to diagnose behaviors that could be scaled up as new projects are added, leading to the potential of comparative diagnoses between these disorders.

Next: Return Home