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