Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Commission on Novel Technologies for Neurodevelopmental Copy Number Variant
Dup15q Alliance is proud to be one of the founding Patient Advocacy Groups within the Commission for Novel Technologies for Neurodevelopmental Copy Number Variants, aka CNV Commission.
We are happy to announce this recent publication within the American Journal of Human Genetics that was a result of many working group meetings and a conference all convened by the CNV Commission (see below). It is our hope that this Perspective leads to more research, more funding, and ultimately more treatments for complex CNVs and structural variants, such as ring chromosomes.
Thanks to our Board Member Vanessa Vogel-Farley and our partners: Project 8p Foundation and Ring 14 USA
Thanks to the Chan Zuckerberg Initiative Rare as One grant that lifted the project off the ground.
Link to full paper: https://dup15q.org/wp-content/uploads/2022/09/CNV-Road-map.pdf