Using the power of video to SPEED UP DIAGNOSIS, aid research
​and improve lives
Developed by GeneticaLens, the ​SEE System is a process of creation and organization of videos of rare and difficult-to-diagnose disorders into a searchable, interactive database.

BRING THE FEATURES OF A DISEASE TO LIFE
Adrian & Riley's Hypermotoric Movements, Lack of Language, & Happy Demeanor

​Adrian & Riley are twins with Angelman syndrome, a rare genetic disorder. This video of them at an appointment with pediatric neurologist Dr. Terry Hutchison demonstrates many features of Angelman syndrome: the boys are constantly moving around (hypermotoric movements,) completely silent (indicating language impairment) and smiling and happy the whole time (the happy demeanor is one common and noticeable features of Angelman syndrome.) 

Footage: The Angelman Project
Observing Gait​

A major feature of Angelman syndrome is impaired mobility and a distinctive gait. It's hard to visualize the jerky, awkward gait when it's described in text. With video however, it's easy to observe, and later recognize, the gait of individuals with Angelman syndrome. 



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Footage: The Angelman Project
Oriel's Receptive Language Skills

Oriel has Angelman syndrome. One feature of the disorder is severe speech impairment, which leaves most individuals unable to speak, or able to say only a couple simple words. However, most people with Angelman syndrome have strong receptive language skills.

This video demonstrates Oriel's receptive language skills. Watch as she makes signs related to the topic of conversation.

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Footage: The Angelman Project
Unusual Finger Movements​

​One sign of autism spectrum disorder is the presence of repetitive  or unusual behaviors and movements. In this video, Dr. Alexander Kolevzon gives commentary on these movements. 

Features like this can be hard to understand without seeing them. 
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Footage: Well Child Lens
Commentary by Dr. Alexander Kolevzon, MD, Professor of Psychiatry & Pediatrics at Icahn School of Medicine at Mount Sinai

VIEW CHANGES OVER TIME
Kasey's Tremors Worsen

Kasey has Angelman syndrome. In the first part of the video, you can see her at age 13, walking fairly typically for a child with Angelman syndrome. Over the next year however, Kasey experienced an increase in her tremors, which severely impaired her ability to walk. The second clip shows Kasey at 14 years old walking with the help of her mom. 



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Footage: The Angelman Project
Sam's Gait Comparison

Sam has familial dysautonomia. In this video, you can see a comparison between her gait when she was 13 years old and her gait at 30 years old. 

At 13, she is unsteady, but able to walk on her own. At 30, she requires a walker, and she can't move her legs as easily. 

Footage: The Hope Scenarios

COMPARE DIFFERENT CASES
Sam & Keshi Compare Symptoms

Sam and Keshi both have familial dysautonomia. They both experience similar symptoms, but with different levels of severity. In particular, Sam's sensory ataxia severely impairs her balance and ability to walk, while Keshi is able to walk without any assistance. The two also discuss their problems with unstable blood pressure, another symptom of FD.

​Footage: The Hope Scenarios
Comparing Joint Attention

In this video, Benjamin, a typically-developing toddler, is compared with his brother, Nathan, who has been diagnosed with Autism Spectrum Disorder. By viewing the videos side by side, you can see the differences between the two children as they attend to objects and engage with others. 


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Footage: Well Child Lens

SEE IMPACT OF DISORDERS ON QUALITY OF LIFE
Interview with Troy's Mom

In this video, the mother of Troy, who has Angelman syndrome, talks about getting the diagnosis, and the effects of Troy's seizures on his development and quality of life. In addition, the clip touches on the effect of Troy's seizures on the family's quality of life and well-being. 


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Footage: The Angelman Project
"She's Fine, She Looks Fine, So She's Fine"

In this video, Epiphany, who lives with sickle cell disease, talks about acting, and how her pain and related sickle cell symptoms can interfere with her ability to perform onstage, especially when the people she's working with are not accommodating to her needs. 


Footage: The Hope Scenarios

​OBSERVE INTERVENTIONS & TREATMENTS
Josh's Occupational Therapy

Josh has Angelman syndrome. He works with an occupational therapist to improve his fine motor skills. Improving his finger dexterity can help him do other tasks, like use an assisted communication device. They also work on his balance and gross motor skills. 




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Footage: The Angelman Project
Sam's Physical Therapy
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Sam, who has familial dysautonomia, has worked with her physical therapist, Wen, since she was just 18 months old. Now, 29 years later, Wen still works with Sam to help keep her body moving and healthy. 



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Footage: The Hope Scenarios
Wells' ABA Therapy

Wells is a young child with autism. In this clip, you'll see ABA therapy in action as Wells works with his teacher Georgia Stiponias. The video also features clips of Wells' team of therapists and psychologists discussing his therapy and progress. 


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Footage: Well Child Lens
Wells' Therapy Working

Wells has participated in extensive ABA therapy since his diagnosis. In this video, Wells' dad talks about how the therapy has helped Wells open his eyes to the world. 



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Footage: Well Child Lens

LEARN FROM THE EXPERIENCES OF PARENTS AND CAREGIVERS
Liana's Mom Talks About Realizing Something Was Wrong

​Liana's mom, Nadia, talks about her realization that something was wrong with her child, and the improvements she's seen after enrolling her in early intervention. 



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Footage: Well Child Lens
Troy's Biting

​Troy has Angelman syndrome. In this series of clips, we see examples of Troy's habit of biting people. It also features a commentary by Troy's grandfather and father discussing this behavior.



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Footage: The Angelman Project 
"Grandpa Died, Didn't He?"

In this touching video, the parents of Ben, who has Angelman syndrome, talk about how they navigated a challenging event in Ben's life. 

Videos like this can give caregivers and families ideas, and provide support for parents on how to handle different situations and events in their children's lives. 





​Footage: The Angelman Project
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