Members

Membership

Membership is open to clinical investigators who serve undiagnosed disease patients from all countries.

Members agree to adhere to the principles mentioned in the “General Description”.
Membership List, ordered alphabetically by Country name.


Members list

Argentina

Streitenberger Gisela
Alapa

Australia

Baynam, Gareth
Genetic Services of Western Australia; School of Paediatrics and Child Health (University of Western Australia); Office of Population Health Genomics (Department of Health)

Dudding-byth Tracy
Hunter New England Local Health District And Nsw Genetics Of Learning Disability Service

McGaughra, Julie
Genetic Health Queensland

Palmer, Elizabeth
Sydney Children'S Hospital Network

Austria

Boztug, Kaan
CeMM Research Center of Molecular Medicine- Medical University Vienna-; Ludwig Boltzmann Institute for Rare and Undiagnosed

Nagy Vanja
Ludwig Boltzmann Institute For Rare And Undiagnosed Diseases, Austria

Stary Georg
Ludwig Boltzmann Institute For Rare And Undiagnosed Diseases (Lbi-rud)

Belgium

Cassiman, David
University Hospitals (UH), Leuven

Poppe, Bruce
Ghent University

Brazil

Giugliani, Roberto
House of Rares, Porto Alegre, Brazil

Nociti Francisco
São Leopoldo Mandic - School Of Medicine And Dentistry - Brazil

Bulgaria

Kameranova, Kunka
Molecular Medicine Center, Medical University of Sofia

Stefanov, Rumen
Medical University of Plovdiv

Canada

Brudno, Michael
Sick Kids, Toronto

Lasko, Paul
Canadian Institutes for Health Research Institute of Genetics, Department of Biology, McGill University, Montreal

Chile

Castiglioni, Claudia
Clinica Las Condes

Repetto, Gabriela
Clinica Alemana-Universidad del Desarrollo & Clinica Alemana, Santiago

China

Liu, Zhi-Hong
Zhejiang Univ

Ecuador

Llamos Paneque, Arianne
Servicio de Genetica Medica, Hospital de Especialidades No1. FfAa, Quito

Romero, Vanessa
Universidad San Francisco de Quito

France

Faivre, Laurence
Dijon University Hospital

Ferri Joel
Universite Nord De France Faculte De Medicine

Georgia

Kvlividze, Oleg
School Of Medicine, New Vision University; Georgian Foundation For Genetic And Rare Diseases (Gerad)

Tkemaladze Tinatin
Tbilisi State Medical University

Germany

Riess, Olaf
Institute of Human Genetics and Applied Genomics, University of Tübingen

Ghana

Wiafe Samuel
Rare Disease Ghana Initiative, Mpraeso - Kwahu

Hong Kong

Chung, Hon Yin (Brian)
Queen Mary Hospital

Hungary

Melegh, Bela
University of Pecs

India

Dalal Ashwin
Centre For Dna Fingerprinting And Diagnostics

Gupta Neerja
Aiims, New Delhi

Puri, Ratna
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi

Scaria, Vinod
CSIR Institute of Genomics and Integrative Biology, Genomics for Understanding Rare Diseases India Alliance Network (GUaRDIAN28.6784994549033, 77.30535496847259

Singh, Kuldeep
All India Institue of Medical Sciences

Israel

Anikster, Yair
The Edmond and Lily Safra Childrens Hospital

Marom Daphna
Genetics Institute, Tel Aviv Sourasky Medical Center

Raas-rothschild Annick
Sheba Medical Center

Italy

Caltagirone Carlo
Irccs Fondazione Santa Lucia

Coviello Domenico
Irccs Istituto Giannina Gaslini, Genova

Dallapiccola, Bruno
Bambino Gesù Children Hospital (OPBG), Rome

Dario Roccatello
Cmid, University Centre Of Rare Diseases, San Giovanni Bosco, Torino Italy

Fancellu Roberto
Clinical Center For Diagnosis Orphan Patients, Irccs Ospedale Policlinico San Martino, Genova, Italy

Guaraldi Pietro
Irccs Istituto Delle Scienze Neurologiche Di Bologna

Maines Evelina
Pediatric Unit, Azienda Provinciale Per I Servizi Sanitari, Trento, Italy

Nigro, Vincenzo
Telethon

Novelli Giuseppe
Medical Genetics Unit, Tor Vergata University Of Rome, Italy

Polizzi Agata
Department Of Educational Science/Unit Of Rare Diseases Of The Nervous System In Childhood, University Of Catania, Italy

Remuzzi Giuseppe
Istituto Di Ricerche Farmacologiche Mario Negri Irccs, Clinical Research Center For Rare Diseases "Aldo E Cele Daccò", 24020 - Ranica (Bergamo) Italy

Renieri, Alessandra
Medical Genetics Unit, University Hospital of Siena

Taruscio, Domenica
National Centre for Rare Diseases, Rome, National Institute of Health

Japan

Kosaki, Kenjiro
Keio University

Korea

Ahn, Younjhin
Korea NIH

Chong, Kun Cheon
Pusan National University Childrens Hospital in Yangsan

Park, Hyun-Young
Korea National Institute of Health

Kuwait

Marafi Dana
Kuwait University

Mali

Landoure, Guida
Odontostomatologie, USTT

Malta

Vassallo Josanne
Division Of Endocrinology, Mater Dei Hospital & Molecular And Cellular Research Lab, Centre For Molecular Medicine And Biobanking, University Of malta

Mexico

Gonzaga-Jauregui, Claudia
International Laboratory for Human Genome Research, LIIGH-UNAM

New Zeland

Ewans, Lisa Jean
Sydney Children'S Hospital Network - Randwick, Royal Prince Alfred Hospital, Camperdown

Pakistan

Azam Maleeha
Comsats University Islamabad, Pakistan

Kirmani Salman
Aga Khan University, Karachi

Waqas Ahmed
University Of Education

Philippines

Cutiongco De La Paz, Eva Maria
Institute of Human Genetics, National Institute of Health, University of the Philippines, Manila

Saudi Arabia

Khamis Modi
King Abdulaziz Medical City

Umair Muhammad
King Abdullah International Medical Research Center

Serbia

Kavecan Ivana
Department Of Pediatrics, Faculty Of Medicine, University Of Novi Sad, Novi Sad, Serbia And Institutue For Children And Youth Health Care Of Vojvodina

Singapore

Goh Jeannette
Genetics Service, Department Of Paediatrics, Kk Women'S And Children'S Hospital, Singapore

Jamuar, Saumya
Singhealth Duke-nus Genomic Medicine Centre

South Africa

Moosa Shahida
Rare Disease Genomics In South Africa

South Korea

Moon Jangsup
Seoul National University Hospital

Spain

Barrero Nunez Maria Jose
Spainudp

Palau Francesc
Sant Joan De Déu Children'S Hospital

Posada, Manuel
Institute of Rare Diseases Research

Pujol, Aurora
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona

Sri Lanka

Dissanayake, Vajira HW
Human Genetics Unit, Faculty of Medicine, University of Colombo

Hettiarachchi, Dineshani
Human Genetics Unit, Faculty of Medicine, University of Colombo

Sweden

Cederroth Mikk
Wilhelm Foundation

Helene Cederroth
Wilhelm Foundation

Nordgren, Ann
Karolinska UDP, Karolinska University Hospital

Switzerland

Superti-Furga, Andrea
Lausanne University Hospital

Thailand

Shotelersuk, Vorasuk
Chulalongkorn University, Bangkok

The Netherlands

Marcelis, Carlo
Radboud University Medical Center, Nijmegen

Oei, Ling
Erasmus University Medical Center, Rotterdam

Van Zelst-Stams, Wendy AG
Department of Human Genetics, Radboud University Medical Center

Turkey

Akgun Dogan Ozlem
Acibadem University

Alanay, Yasemin
Acibadem Mehmet Ali Aydinlar University

Ceylaner, Serdar
Intergen Genetics Diagnosis and Research Center, Ankara University

Inal Gultekin Guldal
Istanbul Okan University

Ozen, Seza
Hacettepe University

United States

Babovic-Vuksanovic, Dusica
Mayo Clinic

Bodamer, Olaf
Harvard

Botto, Lorenzo
University of Utah

Ekker Stephen
Mayo Clinic

Gahl, William
National Institutes of Health, National Human Genome Research Institute

Groft, Stephen
National Center for Advancing Translational Sciences, National Institutes of Health

Klee, Eric
Mayo Clinic

Korf, Bruce
University of Alambama at Birmingham

Malicdan, May
Office of Clinical director, NIH Undiagnosed Diseases Program

McCray, Alexa
Harvard Medican School

Metz, Tim
Pacific Northwest National Laboratory

Meyn Stephen
University Of Wisconsin Center For Human Genomics And Precision Medicine

Partin, William Clyde
Emory Special Diagnostic Services Clinic-Emory University School of Medicine

Pearce, David A.
Sanford

Phillips III, John A.
Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine

Puffenberge, Erik
The Clinic for Special Children

Schimmenti, Lisa
Mayo Clinic

Strauss, Kevin
The Clinic for Special Children

Sullivan, Kathleen
CHOP - Childrens Hospital of Philadelphia

Tiff Cynthia
Nih Undiagnosed Diseases Program

Yamamoto, Shinya
Baylor