Cardiovascular Clinical Domain Working Group



The Cardiovascular Disease Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant for cardiovascular genetic and genomic medicine.  

Goals:

  1. Identify clinical cardiovascular molecular genetic laboratories and facilitate their data submission to ClinVar. 
  2. Identify and recruit domain experts who are willing and able to participate in projects including but not limited to gene and variant curation.
  3. Develop and implement variant curation processes for cardiovascular disease genes.
  4. Disseminate expert consensus gene and variant curations via ClinVar and publications.
  5. Curate and adjudicate genes associated with cardiovascular disease using the ClinGen Gene Curation Working Group gene:disease classification framework.
  6. Define the phenotypic and other data that are needed to assess pathogenicity (e.g., functional assays, histopathology).


Initiatives & Announcements

ClinGen CMP-EP/ACGS collaboration Feb. 5 2018 View
Name Role
Birgit H. Funke, PhD, FACMG Executive Leadership
Ray Hershberger, MD Executive Leadership
Michael Ackerman, MD PhD Executive Committee
Euan Ashley, MD, PhD Executive Committee
Jonathan Berg, MD, PhD Executive Committee
Colleen Caleshu, MS, LCGC Executive Committee
Melanie Care, MSc, CGC Executive Committee
Julie De Backer, MD, PhD Executive Committee
Harry Dietz, MD Executive Committee
Michael Gollob, MD Executive Committee
Jodie Ingles, GradDipGenCouns, MPH, PhD Executive Committee
Jan Jongbloed, PhD Executive Committee
Melissa Kelly MS, CGC Executive Committee
Joshua W. Knowles, MD, PhD Executive Committee
Bart Loeys, MD Executive Committee
Bill McKenna, MD Executive Committee
Dianna Milewicz, MD, PhD Executive Committee
Ana Morales, MS, LGC Executive Committee
Valeria Novelli PhD Executive Committee
Erin M. Ramos, MPH, PhD Executive Committee
Chris Semsarian, MD, PhD Executive Committee
Amy Sturm, MS, LGC Executive Committee
Peter van Tintelen, MD, PhD Executive Committee
James Ware, PhD Executive Committee
Arthur Wilde MD, PhD Executive Committee
C. Lisa Kurtz, PhD Coordinator
Laura Milko, PhD Coordinator

Leadership

Birgit H. Funke, PhD, FACMG

Ray Hershberger, MD


Coordinators

Please contact a coordinator if you have questions.

C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu

Laura Milko, PhD
laura_milko@med.unc.edu


Membership

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

C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu

Laura Milko, PhD
laura_milko@med.unc.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.