Community Curation Working Group

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 Comprehensive 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

Aminoaciopathy

Autism and Intellectual Disability

Brain Malformations

Epilepsy

Hemostasis/ Thrombosis*

Mitochondrial Diseases

Hereditary Cancer

Variant Curation Expert Panels

RASopathy*

Inherited Cardiomyopathy*

PTEN*

Myeloid Malignancy

VHL (Von Hippel-Lindau)*

TP53

Mitochondrial diseases

CDH1

Hearing Loss*

Storage Disease

Coagulation Factor Deficiency

Platelet Disorders

Breast/Ovarian Cancer (newly forming)

Colorectal Cancer (newly forming)

Fatty Acid Oxidation (newly forming)

Cerebral Creatine Deficiency Syndrome (newly forming)

Somatic Cancer Working Group

Pediatric

Pancreatic (newly forming)

Actionability Working Group

 

 

 

 


Leadership

Danielle Azzariti, MS, CGC

Marina DiStefano, PhD

Jenny Goldstein, PhD, CGC

C. Lisa Kurtz, PhD

Jennifer McGlaughon, PhD

Laura Milko, PhD

Ronak Patel

Shruti Rao

Erin Rooney Riggs, MS, CGC

Deborah Ritter, PhD

Courtney Thaxton, PhD

Kelly Toner, MA

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