Undiagnosed Day
29 April
In 2025, Global Undiagnosed Day
will take place in
South Africa.
Undiagnosed Day 2023
Awareness webinar
A celebration to all living with an Undiagnosed Disease and their loved ones and in memory of the ones lost
Undiagnosed Day 2023
by UDNI & Wilhelm Foundation
28 -
29 April 11:30 UTC
Click to watch the recorded webinar d or scroll down to Watch here at the bottom of the page
No registration needed
All Undiagnosed should have a chance to get a diagnosis
There are 3 types of undiagnosed
-
The ones that does have a rare disease but haven't been diagnosed yet
-
The misdiagnosed
-
The ones that have a disease not discovered by medical science yet
Program
11:30 UTC
Introduction
Ava Zanik(Szajnuk)
Helene & Mikk Cederroth
Domenica Taruscio
William (Bill) Gahl
11:45 UTC
Keynote: Undiagnosed Hackathon
Ann Nordgren,
Diversity and Beauty
Rick Guidotti
Developing countries
Domenica Taruscio
12:05 UTC
Solve the “Unsolvable”, UDNI Diagnostic WG
Emma Palmer
The Global Nursing Network
Gareth Baynam
Lyfe Language
Thomas Yarlalu
12:20 UTC
Importance of a Diagnosis
Lisa Schimmenti
Undiagnosed Diseases program (UDP) USA
Cyndi Tifft
Undiagnosed Diseases program (UDP) Korea
Jong Hee Chae
12:37 UTC
Diagnostic Odyssey in China
Peirong (Rachel) Yang Lingenhag
Undiagnosed Diseases program (UDP) India
Ratna Puri
Organization of Rare Disease India ORDI
Dr Aparna U Simha
Genetic counsler
Stephanie Broley
13:00 UTC
Undiagnosed Diseases program (UDP) Italy
Vincenzo Nigro
Diagnostic odyssey
Gulcin Gumus
Undiagnosed Diseases program (UDP) Netherlandsb
Wendey van Zelst-Stams
Undiagnosed Diseases SWAN Clinic
Matt Spencer
How to use Functional Studies to find a diagnosis?
Shinya Yamamoto
Undiagnosed Diseases program (UDP) Mexico
Claudia Gonzaga-Jauregui
There is nothing more to be done
Malin and Jens Kristiansson
Solve the “Unsolvable” Reanalysis - RENEW
Eric Klee
13:50 UTC
Zoyas Law
Bojana Mirosavljevic
Code/flag for Undiagnosed diseases
Helen W. Hernandez
VSOP The Netherlands
Sigrid Henriks
Champion Initiative Pakistan
Salman Kirmani,
Champion Initiative Ghana
Samuel Wiafe
13:00 UTC
Undiagnosed Diseases program (UDP) Italy
Vincenzo Nigro
Diagnostic odyssey
Gulcin Gumus
Undiagnosed Diseases program (UDP) Netherlandsb
Wendey van Zelst-Stams
Undiagnosed Diseases SWAN Clinic
Matt Spencer
How to use Functional Studies to find a diagnosis?
Shinya Yamamoto
Undiagnosed Diseases program (UDP) Mexico
Claudia Gonzaga-Jauregui
There is nothing more to be done
Malin and Jens Kristiansson
Solve the “Unsolvable” Reanalysis - RENEW
Eric Klee
13:50 UTC
Zoyas Law
Bojana Mirosavljevic
Code/flag for Undiagnosed diseases
Helen W. Hernandez
VSOP The Netherlands
Sigrid Henriks
Champion Initiative Pakistan
Salman Kirmani,
Champion Initiative Ghana
Samuel Wiafe
Champion Initiative Congo
Aimé Lumaka
SolveRD
Olaf Riess
Undiagnosed in Denmark
Asuman Zeynep Tümer
SWAN Australia
Heather Renton,
14:45 UTC
Closing Key address
Amy Gray
Thank you!
Helene and Mikk Cederroth
Speakers
Ava Zanik(Szajnuk), Undiagnosed Rare Disease Advocate, Rare and Undiagnosed Network (RUN)
Helene and Mikk Cederroth, Founders Wilhelm Foundation - the Undiagnosed
Domenica Taruscio UDNI, Italy
William (Bill) Gahl, Director of UDP, Bethesda, NIH, USA
Ann Nordgren, Professor, Karolinska Institute, Karolinska UDP, Sweden
Rick Guidotti, Photographer, Positive Exposure, USA
Emma Palmer, Sydney Children'S Hospital NetworkCo-chair Diagnostic WG
Gareth Baynam, Medical Director, Rare Care Centre, Perth Children’s Hospital Western Australia
Thomas Yarlalu, Lyfe Languange Western Australia
Lisa Schimmenti, Professor, Mayo Clinic, USA
Cyndi Tifft, Senior Clinician, Bethesda UDP, NIH USA
Jong Hee Chae, Seoul National University Hospital, Korean UDP
Peirong (Rachel) Yang Lingenhag, RDI
Ratna Puri, Senior Consultant and Chairperson, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, India
Dr Aparna U Simha from ORDI, Consultant , Rare Clinic, India
Stephanie Broley, Genetic Counsler, Western Australia
Vincenzo Nigro, Professor of medical genetics, TIGEM and University of Campania Luigi Vanvitelli, Italy
Gulcin Gumus, EURORDIS
Wendey van Zelst-Stams, Department of Human Genetics, Radboud University Medical Center, The Netherlands
Matt Spencer, Rare Disease Paediatric Clinical Fellow, SWAN Clinic Cardiff, UK
Shinya Yamamoto, Assistant Professor, Baylor College of Medicine, USA
Claudia Gonzaga-Jauregui UDP, Assistant Profesor, International Laboratory for Human Genome Research, UNAM, Mexiko
Malin and Jens Kristiansson, Parents from Sweden
Eric Klee,Director of Bioinformatics, Mayo Clinic Center for Individualized Medicine, USA
Bojana Mirosavljevic, Director, Patient Advocacy Strategy
Helen W. Hernandez, Scientist and Co-Founder at KAL Research Initiative
Sigrid Henriks, MD, Policy Officier, VSOP, The Netherlands
Salman Kirmani, Chair, Division of Women & Child Health, Consultant Medical Geneticist & Paediatric Endocrinologist, Aga Khan University, Pakistan
Samuel Wiafe, Executive Director, Rare Disease Ghana Initiative, Ghana
Aimé Lumaka, Professor, Director, Centre de Référence pour les Maladies Rares et Non-diagnostiquées (CRMRND) / University of Kinshasa, Republic of Congo
Olaf Riess, Coordinator, Institute of Medical Genetics and Applied Genomics and Centre for Rare Diseases, University of Tübingen
Asuman Zeynep Tümer, Clinical Professor, Department of Clinical Medicine, Københavns Universitet, Denmark
Heather Renton, SWAN Australia
Amy Gray, CEO UDNF Undiagnosed Diseases Network Foundation
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