Participants 2024

Australia

Gareth Baynam, Rare Care Centre, Perth Children's Hospital

Lisa Ewans, Sydney Children's Hospitals Network Randwick; Garvan Institute of Medical Research

Palmer Elizabeth Emma, University of New South Wales,
Tudor Groza, Rare Care Centre

Belgium

Zakaria Eddafir, University of Antwerp
Benjamin Huremagic, KU Leuven


Brazil

Bibiana Mello de Oliveira, Casa Dos Raros
Charles Marques Lourenco, Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP)


Canada

Mary Jane Dykeman, INQ Law

Orion Buske, PhenoTips

Paul Lasko, Department of Biology, McGill University


Colombia

Adrien Morel, Universidad del Rosario

Carlos M. Restrepo, Universidad del Rosario

Ingrid Bernal Bonilla, National University of Colombia


Cyprys

Sofia Ourani, Hospital Archbishop Makarios III

Democratic Republic of Congo (DR Congo)
Aimé Lumaka, Universiy of Kinshasa

Gerrye Mubungu Lumbono Reference Center of Rare and Undiagnosed diseases

Prince Makay, University of Kinshasa, Reference Center of Rare and Undiagnosed Diseases


Denmark

Zeynep Tumer, Copenhagen University Hospital, Rigshospitalet

France

Larisa Okorokova, Université Côte d'Azur


Ghana
Samuel Agyei Wiafe, Rare Disease Ghana Initiative

Georgia

Tika Tkemaladze, Tbilisi State Medical University

Germany

Felix Brechtmann, Technical University of Munich

German Demidov, IMGAG, Tübingen

Pablo Botas, Nostos Genomics GmbH

Rocio Acuna Hidalgo, Nostos Genomics GmbH

Vicente Yépez, Technical University of Munich

Zafer Yüksel, Bioscientia GmbH


India

Ratna dua Puri, Sir Ganga Ram Hospital 

Neha Garg, Sir Ganga Ram Hospital


Italy

Margherita Scarpato, University of Campania L Vanvitelli

Mariateresa Zanobio, University of Campania L Vanvitelli


Japan

Toyofumi Fujiwara, Database Center for Life Science

Eisuke Dohi, Section Leader/National Center of Neurology and Psychiatry


Lithuania

Rasa Traberg, Lithuanian university of health sciences hospital Kauno klinikos


Pakistan

Ambrin Fatima, Aga Khan University

Mahrukh Nasir, The Aga Khan University Hospital

Salman Kirmani, Aga Khan University, Karachi 


Philippines

Eva Maria Cutiongco de la Paz, University of the Philippines 


Romania

Ioana Streata, University of Medicine and Pharmacy from Craiova

Plaiasu Vasilica, INSMC Alessandrescu-Rusescu Bucharest


Singapore

Weng Khong LIM, Duke-NUS Medical School

Lim Jiin Ying, KK Women’s and Children’s Hospital


South Africa

Shahida Moosa, Stellenbosch University


Spain

Beatriz Martinez-Delgado, Institute of Health Carlos III

Irene Valenzuela, Hospital Vall d'Hebron

Manuel Posada de la Paz, Instituto de Salud Carlos III
Marta Codina Solà, Hospital Universitari Vall Hebron

Steven Laurie, CNAG


Sweden

Angélica Maria Delgado Vega, Karolinska University Hospital

Ann Nordgren, Karolinska Institute

Anna Lindstrand, Karolinska Institute

Esmee ten Berk de Boer, Karolinska Institute

Fulya Taylan, Karolinska Institute

Giedre Grigelioniene, Karolinska University Hospital

Helene Cederroth, Wilhelm Foundation
Kristine Bilgrav Saether, Karolinska Institute

Mikk Cederroth, Wilhelm Foundation


Switzerland 

Rachel Yang, Fudan University Zhongshan Hospital China, 


The Netherlands
Alexander Hoischen, Radboudumc

Annet Simons, Radboudumc

Bart van der Sanden, Radboudumc

Carlo Marcelis, Radboudumc

Christian Gilissen, Radboudumc

Daphne Stemkens, Radboudumc

Elke de Boer, Radboudumc
Galuh Astuti, Radboudumc

Helger Yntema, Radboudumc

Federico Ferraro, Erasmus MC

Jeroen van Reeuwijk, Radboudumc

Kornelia Neveling, Radboudumc

Lisenka Vissers, Radboudumc
Lonneke Haer-Wigman, Radboudumc

Lot Snijders Blok, Radboudumc

Lydia Sagath, Radboudumc

Machteld Oud, Radboudumc

Milou Kennis, Radboudumc

Nick Zomer, Radboudumc

Nicole de Leeuw, Radboudumc
Patricia Daaleman, Radboudumc

Rachel Schot, ErasmusMC

Rick Kamps, Maastricht University

Robin WIjngaard, Radboudumc

Ronny Derks, Radboudumc

Saskia Koene, Radboudumc

Stefan Barakat, Erasmus MC University Medical Center
Wendy van Zelst-Stams, Radboudumc


Turkey

Ahmet Okay Caglayan, Dokuz Eylul University

F.Mujgan Sonmez, Karadeniz Technical University

United Kingdom

Ali Awan, Guy's and St. Thomas' NHS Foundation Trust

Drew Ellershaw, Illumina

Heba Morsy, University College London

Helen Griffin, Newcastle University

Holly Bradley, Illumina

Jennifer Gardner, All Wales Medical Genomics Service

Marta Delfino, William Harvey Research Institute, Queen Mary University of London
Matthew Spencer, Syndrome Without A Name (SWAN) Clinic
Patrick Campbel, King's College London

Raquel Peck, Chan Zuckerberg Initiative

Shirlene Badger, Illumina

Yaroslav Kainov, Department of Medical and Molecular Genetics, King's College London


USA

Alex Hastie, Bionano

Alistair Ward, University of Utah

Cherisse Marcou, Mayo Clinic

David Pearce, Sanford Health

Eric Klee, Mayo Clinic

Heather Williams, Cache DNA

Lorenzo Botto, University of Utah Medical Genetics

May Christine Malicdan, NIHUDP, NIHGRI

Michael Eberle, PacBio

Olaf Bodamer, Boston Children's Hospital
Shinya Yamamoto, Baylor College of Medicine

Stephen Meyn, University of Wisconsin - Madison

Tania Simoncelli, Chan Zuckerberg Initiative

Xiao Peng, Johns Hopkins University School of Medicine 

Zev Kronenberg, PacBio