Interested in volunteering for curation efforts, take our survey!

If you have any questions, please feel free to email us at volunteer@clinicalgenome.org

 

Current Curation Efforts Accepting Volunteers

* These efforts require specific skill sets and/ or prior experience with curation

Dosage Sensitivity Working Group*

Dosage-Recurrent Regions*

Dosage- Neurodevelopemental*

Dosage- Hereditary Cancer (newly forming)*

Gene Curation Expert Panels

Autism and Intellectual Disability

Epilepsy

Hemostasis/ Thrombosis

Mitochondrial Diseases

Variant Curation Expert Panels

RASopathy*

Inherited Cardiomyopathy*

PTEN*

Myeloid Malignancy

VHL (Von Hippel-Lindau)*

Breast/Ovarian Cancer (newly forming)

Colorectal Cancer (newly forming)

Mitochondrial diseases

CDH1

Somatic Cancer Working Group

Pediatric

Nonsmall cell lung cancer (newly forming)

Pancreatic (newly forming)

Somatic TP53 (newly forming)

 

 

 


Leadership

Danielle Azzariti, MS, CGC

Marina DiStefano, PhD

Jenny Goldstein, PhD, CGC

C. Lisa Kurtz, PhD

Jennifer McGlaughon, PhD

Laura Milko, PhD

Ronak Patel

Erin Rooney Riggs, MS, CGC

Deborah Ritter, PhD

Courtney Thaxton, PhD

Elizabeth Webber, MS

Matt Wright, PhD


Coordinators

Please contact a coordinator if you have questions.

Elizabeth Kearns
liz_kearns@med.unc.edu


Membership

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

Elizabeth Kearns
liz_kearns@med.unc.edu