Hearing Loss Clinical Domain Working Group


The Hearing Loss Working Group aims to create a comprehensive, standardized knowledge base of genes and variants relevant to syndromic and nonsyndromic hearing loss.

Goals:

  • Identify and recruit hearing loss experts with expertise in racially/ethnically/regionally diverse populations throughout the world.
  • Develop and implement a variant assessment framework for hearing loss genes.
  • Implement the variant assessment framework to resolve discrepancies in variant interpretations in ClinVar.
  • Establish a group with Expert Panel status for variant submission to ClinVar.
  • Curate and adjudicate genes associated with hearing loss using ClinGen's Gene Curation Working Group's "Clinical Validity Classifications."
  • Disseminate expert consensus gene and variant curation results via ClinVar, ClinGen's website, and publications.

Related Manuscripts:

 



Name Role
Ahmad Abou Tayoun, PhD Executive Leadership
Sami Amr, PhD Executive Leadership
Heidi Rehm, PhD Executive Leadership
Andrea Oza, MS, CGC Coordinator
Sonia Abdelhak, PhD Member
John Alexander, PhD Member
Karen B. Avraham, PhD Member
Hela Azaiez, PhD Member
Elizabeth Black-Ziegelbein Member
Kevin Booth Member
Lucas Bronicki, PhD Member
Zippi Brownstein, PhD Member
Rachel Burt, PhD Member
Alexander Chapin, PhD Member
Parna Chatteraj Member
Ignacio del Castillo, PhD Member
Marina DiStefano, PhD Member
Lilian Downie, PhD Member
Hatice Duzkale, MD, MPH, PhD Member
Sean Ephraim Member
Thomas Friedman, PhD Member
Anne Giersch, PhD Member
Andrew Grant Member
John Greinwald, MD Member
Andrew Griffith, MD, PhD Member
Sarah Hemphill Member
Amy Hernandez, MS, CGC Member
Jeffrey Holt, PhD Member
Makoto Hosoya, MD, PhD Member
Margaret Kenna, MD, MPH Member
Un-Kyung Kim, PhD Member
Diana Kolbe, PhD Member
Ian Krantz, MD Member
Hannie Kremer, PhD Member
Suzanne Leal, PhD Member
Xue Liu, PhD Member
Minjie Luo, PhD Member
Rong Mao, MD Member
Saber Masmoudi, PhD Member
Tatsuo Matsunaga, MD, PhD Member
Miguel Angel Moreno Pelayo, PhD Member
Matías Morín, PhD Member
Cynthia Morton, PhD Member
Hideki Mutai, PhD Member
Arti Pandya, MD, MBA Member
Christine Petit, MD, PhD Member
Jessica Ratay, MS, CGC Member
Jun Shen, PhD Member
Rebecca Siegert Member
Richard Smith, MD Member
Mustafa Tekin, MD Member
Lisbeth Tranebjærg, MD, PhD Member
Shin-ichi Usami, MD, PhD Member
Guy Van Camp, PhD Member
Kazuki Yamazawa, MD, PhD Member
Tao Yang, PhD Member
Huijun Yuan, PhD Member
Wenying Zhang, MD, PhD Member
Kejian Zhang, MD, MBA Member

Leadership

Ahmad Abou Tayoun, PhD

Sami Amr, PhD

Heidi Rehm, PhD


Coordinators

Please contact a coordinator if you have questions.

Andrea Oza, MS, CGC
amoza@partners.org


Membership

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

Andrea Oza, MS, CGC
amoza@partners.org


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.