Neurodevelopmental Disorders Clinical Domain Working Group


The Neurodevelopmental Disorders Clinical Domain Working Group aims to centralize and curate knowledge in order to defines the clinical relevance of genes and variants associated with neurodevelopmental disorders for use in precision medicine and research.



Leadership

Michael Friez, PhD

Heather C. Mefford, MD, PhD

Scott Myers, MD, FAAP


Coordinators

Please contact a coordinator if you have questions.

Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu

Kelly Toner, MA
ktoner1@geisinger.edu


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu

Kelly Toner, MA
ktoner1@geisinger.edu


What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.


What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.