Monogenic Diabetes Clinical Domain Working Group


​The Monogenic Diabetes Expert Panel will develop a sustainable process for systematic consensus review for pathogenicity and submission to ClinVar of MODY, neonatal diabetes genes, Wolfram syndrome, mitochondrial diabetes and other syndromic genes agreed upon by consensus. 



Name Role
Toni I. Pollin, PhD, CGC Executive Leadership
Linda Jeng, MD, PhD FACMG Executive Leadership
Ruth Cosentino, MS, MT ASCP Coordinator
Kristin Maloney, MS, MGC, CGC Member
Haichen Zhang, MS Member
Elizabeth Streeten, MD Member
Yue Guan, PhD CGC Member
Andrew Hattersley, FRCP FMedSci FRS Member
Sian Ellard, PhD, FRCPath Member
Kevin Colclough, BS Member
Louis Philipson, MD PhD Member
Rochelle N. Naylor, MD Member
Siri Greeley, MD, PhD Member
Daniela del Gaudio, PhD FACMG Member
Soma Das, PhD Member
Darrel Waggoner, MD FACMG Member
Rinki Murphy, MD Member
Andrea Ramirez, MD Member
Janet Williams, MS LGC Member
David Carey, PhD Member
Jessica Goehringer, MS LGC Member
Uyenlinh Mirshahi, PhD Member
Liana Billings, MD, MMSc Member
Gabriele Richard, MD, FACMG Member
Oscar Cano Member
Wendy Chung Member
Tiinamaija Tuomi, MD, PhD Member
Stepanka Pruhova, PhD Member
Ivan McGowan, BSc, MHGSA, MIT Member
Fumihiko Urano, MD, PHD Member
Josep Oriola, PhD Member
Miriam Udler, MD, PhD Member
Milena Teles, MD, PhD Member
Benjamin Glaser, MD Member
Daniela Gašperiková, DrSc Member
Sabrina Prudente, PhD Member
Fabrizio Barbetti, MD, PhD Member
Wojciech Młynarski, MD, PhD Member
Soo Heon Kwak, MD, PhD Member
Petra Dusatkova, MSc, PhD Member
Cécile Saint-Martin, PhD Member
Christine Bellanné-Chantelot, MCU-PH Member
Wuyan Chen, PhD Member
Camilla Valtonen-André, MD, PhD Member
Wim Wuyts, PhD Member
Martina Skopkova, PhD Member
Brissa Martin, MS, LCGC Member
Rishona Lavy, MS, CGC Member
Sarah Isken Member
Heike Torkler Member
Kathrin Buning Member

Leadership

Toni I. Pollin, PhD, CGC

Linda Jeng, MD, PhD FACMG


Coordinators

Please contact a coordinator if you have questions.

Ruth Cosentino, MS, MT ASCP
rcosenti@som.umaryland.edu


Membership

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

Ruth Cosentino, MS, MT ASCP
rcosenti@som.umaryland.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.