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

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

McGaughra, Julie
Genetic Health Queensland

Palmer, Elizabeth
Sydney Children'S Hospital Network

Austria

Boztug, Kaan
Medical University of Vienna, Dept of Pediatrics and Adolescent Medicine, Vienna Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna St. Anna Children’s Cancer Research Institute, Vienna

Milenkovic Ivan
Department Of Neurology, Medical University Vienna

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

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

Azerbaijan

Mammadbayli Aytan
Azerbaijan Medical University

Bahrein

Skrypnyk Cristina
Al Jawhara Center For Molecular Medicine, Arabian Gulf University

Belgium

Cassiman, David
University Hospitals (UH), Leuven

Poppe, Bruce
Ghent University

Brazil

Giugliani, Roberto
House of Rares, Porto Alegre, Brazil

Lourenco Charles
Brazilian National Reference Center For Rare Diseases - Faculdade De Medicina De São José Do Rio Preto (Famerp)

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

Cyprus

Ourani Sofia
Hospital Archbishop Makarios Iii, Nicosia, Cyprus

Czech Republic

Macek Milan
National Coordination Centre For Rare Diseases - Motol University Hospital Of 2nd Faculty Of Medicine, Charles University Prague

Democratic Republic of Congo

Lumaka Aime
Centre De Référence Des Maladies Rares Et Non Diangostiquées (DRC)

Denmark

Tumer Zeynep
Department Of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet

Ecuador

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

Romero, Vanessa
Universidad San Francisco de Quito

Egypt

Zaki Maha
Clinical Genetics Department, National Research Centre

France

Faivre, Laurence
Dijon University Hospital

Ferri Joel
Universite Nord De France Faculte De Medicine

Georgia

Kardava Anzhelika (trainee)

Khvedelidze Khatia
Tbilisi State Medical University

Kvaratskhelia Eka
Tbilisi State Medical University

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

Pagava Karaman
Tbilisi State Medical University

Tkemaladze Tinatin
Tbilisi State Medical University

Germany

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

Yepez Vicente
Technical University Of Munich

Ghana

Wiafe Samuel
Rare Disease Ghana Initiative, Mpraeso - Kwahu

Great Britain

Avram Paula
Sheffield Children' S Hospital Nhs Foundation Trust

Banka Siddharth
University Of Manchester

Dias Cristina
King'S College London And Guy'S & St. Thomas' Nhs Foundation Trust

Warren Alan
University Of Cambridge

Hong Kong

Chung, Hon Yin (Brian)
Queen Mary Hospital

Hungary

Hadzsiev Kinga
University Of Pécs, Medical Center

Melegh, Bela
University of Pecs

Sümegi Katalin
University Of Pécs

India

Dalal Ashwin
Centre For Dna Fingerprinting And Diagnostics

Datta Dipanjana
Apollo Multispecialty Hospital Neotia Bhagirathi Women and Child Care Hospital, NewTown, Kolkata

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

Marchionni Enrica
Policlinico Tor Vergata Hospital, Rome, 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

Salvatore Marco
Istituto Superiore Di Sanita' National Center For Rare Diseases

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

Japan

Kosaki, Kenjiro
Keio University

Korea

Ahn, Younjhin
Korea NIH

Chae Jong Hee
Seoul National University Hospital

Cho Jae So
Seoul National University Hospital

Chong, Kun Cheon
Pusan National University Childrens Hospital in Yangsan

Kwon Yong Jin
Seoul National University Hospital

Lee Seungbok
Seoul National University Hospital

Moon Jangsup
Seoul National University Hospital

Park, Hyun-Young
Korea National Institute of Health

Kuwait

Alsafi Rasha
Ministry Of Health

Marafi Dana
Kuwait University

Lithuania

Traberg Rasa
Luhs Hospital Kauno Klinikos

Luxembourg

Montserrat Moliner Antoni
Alan Maladies Rares Luxembourg

Malaysia

Thong Meow Keong
University Of Malaya

Mali

Landoure, Guida
Odontostomatologie, USTT

Malta

Calleja-agius Jean
Faculty Of Medicine And Surgery, University Of Malta

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

Maryland

Adams David
Nih Undiagnosed Diseases Program

Mexico

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

Moreno-salgado Rodrigo
Hospital Infantil De Mexico Federico Gomez

Netherlands

Schot Rachel
Erasmusmc, Rotterdam, The Netherlands, Department Of Clinical Genetics

Nigeria

Idris Muhammad Aminu
Ahmadu Bello University Teaching Hospital (Abuth), Zaria, Nigeria

Norway

Douzgou Houge Sofia
Department Of Medical Genetics, Haukeland University Hospital, Bergen, Norway

Houge Gunnar Douzgos
Haukeland University Hospital

Pakistan

Abdullah Uzma
Pmas-arid Agriculture University Rawalpindi

Akbar Fizza
Aga Khan University

Azam Maleeha
Comsats University Islamabad, Pakistan

Fatima Ambrin
Aga Khan University

Kakar Naseebullah
Department Of Biotechnology, Balochistan University Of Information Technology, Engineering And Management Sciences

Khan Saadullah
Department Of Biotechnology & Genetic Engineering, Kohat University Of Science And Technology, Kohat, Pakistan

Kirmani Salman
Aga Khan University, Karachi

Nasir Mahrukh
Aga Khan University Hospital

Waqas Ahmed
University Of Education

Palestine

Khalaf-nazzal Reham
Arab American University

Philippines

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

Portugal

Azevedo Soares Celia
Centro Hospitalar Universitario Do Porto

Romania

Antonescu Madalina
The University of Medicine and Pharmacy Carol Davila, Center for Innovation and E-Health

Ciuca Andra
Babes-bolyai University, Romania

Craiu Dana
Pediatric Neurology Clinic, Alexandru Obregia Hospital Bucharest, University Of Medicine "Carol Davila", Bucharest, Romania

Plaiasu Vasilica
Insmc Alessandrescu-rusescu

Vuturar Romana
University Of Medicine And Phar,Acy From Cluj-napoca

Saudi Arabia

Kashour Tarek
King Saud University Medical City

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

Malherbe Helen
Rare Diseases South Africa Npc

Moosa Shahida
Rare Disease Genomics In South Africa

Vorster Chris
North-west University

South Korea

Kim Soo Yeon
Seoul National University Hospital

Lee Yun Jeong
Kyungpook National University Hospital

Spain

Barrero Nunez Maria Jose
Spainudp

Laurie Steven
Centro Nacional De Análisis Genómico (Cnag), Barcelona, Spain

Martinez-delgado Beatriz
Institute Of Health Carlos Iii (Isciii)

Palau Francesc
Sant Joan De Déu Children'S Hospital

Pons Rodriguez Montserrat
Son Espases University 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

Taiwan

Lee Ni-chung
National Taiwan University Hospital

Thailand

Shotelersuk, Vorasuk
Chulalongkorn University, Bangkok

Sura Thanyachai
Medical Genetics And Genomics Association (Thailand)

The Netherlands

Barakat Stefan
Department Of Clinical Genetics, Erasmus Mc University Medical Center, Rotterdam, 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

Anarbaeva Zhanara
Baskent University, Ankara, Turkey

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

Gencpinar Pinar
Izmir Biomedicine And Genome Center And Rareboost

Inal Gultekin Guldal
Istanbul Okan University

Ozen, Seza
Hacettepe University

Ozturk-hismi Burcu
Marmara University School Of Medicine, Department Of Pediatrics, Division Of Inherited Metabolic Disorders

Sonmez F.Mujgan
Ktu, Dept Of Child Neurology,Retired Lecturer , Trabzon Muscle And Nerve Disorders, Research And Application Center, Ankara, Turkey

Tufan Abdurrahman
Gazi University

United Arab Emirates

El-hattab Ayman
Mena Organization For Rare Diseases

United States

Babovic-Vuksanovic, Dusica
Mayo Clinic

Bodamer, Olaf
Harvard

Botto, Lorenzo
University of Utah

Chung Hyunglok Chung
Houston Methodist Research Institute

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

Morimoto Marie
National Institutes Of Health Undiagnosed Diseases Program

Nicoli Elena-raluca
Bethesda, Maryland

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

Pearce, David A.
Sanford

Peng Xiao
Johns Hopkins University Dept Of Genetic Medicine

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

Pinto E Vairo Filippo
Mayo Clinic

Puffenberge, Erik
The Clinic for Special Children

Schimmenti, Lisa
Mayo Clinic

Seavitt John
The Jackson Laboratories

Strauss, Kevin
The Clinic for Special Children

Sullivan, Kathleen
CHOP - Childrens Hospital of Philadelphia

Tiff Cynthia
Nih Undiagnosed Diseases Program

Yamamoto, Shinya
Baylor College of Medicine

Wales

Duckers Jamie
Cardiff And Vale Uhb

Shortland Graham
Cardiff And Vale Uhb

Tully Ian
All Wales Medical Genomics Service