About Autism

It has been very rewarding to see the 17q12 Foundation grow and expand to continue bringing aware-ness and resources to 17q12 families, and we are honored to be working with you in research, clinical care, and advocacy efforts. We hope that you enjoy the newsletter and that you continue sharing your stories, questions, and resources for the benefit of the 17q12 CNV community.

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17q12 CNVs- PRISMA Research

August, 2019

What are 17q12 CNVs?

17q12 deletion syndrome and 17q12 duplication syndrome.  Both syndromes involve the genes on the long arm (q arm) chromosome 17 at position 12 (one-two). Although the same piece of chromo-some is affected in both syndromes, these are two different syndromes with separate symptoms and features.    

Investigar y escribir

August, 2019

17q12 Publication

17q12 deletion syndrome and 17q12 duplication syndrome.  Both syndromes involve the genes on the long arm (q arm) chromosome 17 at position 12 (one-two). Although the same piece of chromo-some is affected in both syndromes, these are two different syndromes with separate symptoms and features.    

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August, 2019

17q12 Clinical Resources Guide

Do you know of other resources? Send us an email at chromosome17q12@gmail.com and we’ll add them.

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August, 2019

17q12 PRISMA Research

This project at Bradley Hospital, Hasbro Children’s Hospital, and Brown University is looking to un-derstand how genetic information, specifically rare genetic changes, of people with autism and other neurodevelopmental and psychiatric condi-tions can inform healthcare. We want to see how genetic results could be used in the future to in-form medication choice, behavioral intervetions, educatio-nal  interventions, and identification and treatment of other medical conditions that may impact mental health. We will be enrolling indivi-duals with autism or other neurodevelopmental or psychiatric condi-tions for whom a genetic variant has been identified as the underlying cause, such as 17q12 CNVS.

Our Mission

Prisms are wonderful objects; a simple but elegant piece of glass that can take a single stream of light and transform it into a beautiful spectrum of colors, which can be used to shine light in dark places so that we can better see the way.

 

That description recapitulates the mission and vision of our Precision Medicine in Autism (PRISMA) group; we aim to understand the unique strengths and challenges of people with autism or other neurodevelopmental conditions in the context of the diverse rare genetic changes that can be found in up to 1 in 3 people with these diagnoses. By bringing together research, clinical care, education, and community engagement, we focus on creating a comprehensive strategy to improve the healthcare of people with psychiatric conditions stemming from rare genomic disorders. Plus, it highlights our focus on diversity, as “prisma”is the Spanish word for prism!