Undiagnosed Day
29 April 2024
Part 1
An international virtual event
See recording below
Part 2
A hybrid Undiagnosed Day event at Harvard
See recording below
Part 1 - International Undiagnosed Day 2024
Part 2 - International Undiagnosed Day 2024
live at Harvard - recorded
Undiagnosed Day 2024
350 million people live with an undiagnosed disease worldwide.
Today we know that genome sequencing can provide answers for 40 % of children and adults with undiagnosed diseases, but around 60% still don't receive a diagnosis.
Background
Undiagnosed Children’s Day was founded by a mother with an undiagnosed child in USA about ten years ago to raise awareness of undiagnosed diseases that’s affecting children.
2022 Wilhelm Foundation thought that it was time after celebrating the Undiagnosed Children's Day for 8 years, to be more inclusive and change the name to Undiagnosed Day since about
30 % of the undiagnosed diseases affect adults.
The Undiagnosed Day 2024 is a worldwide collaboration between Wilhelm Foundation, UDNF and the UDNI.
No registration needed
Undiagnosed
Day
Global virtual Undiagnosed Day
One global virtual Undiagnosed Day event which will be available here when New Zeeland wakes up on April 29.
The speakers are from UDNI, Patient organization, people living with an undiagnosed disease and Stakeholders.
The Undiagnosed Day at Harvard
Proud to announce that we are also celebrating the Undiagnosed Day at Harvard. It’s an in-person meeting arranged together with UDNF and UDNI. This event will also be recorded, and the link will be published here but due to the time zones it will be later.
Children and adults with undiagnosed diseases are left behind
All Undiagnosed should have a chance to get a diagnosis
Undiagnosed Community
The golden standard for children and adults with Undiagnosed diseases is to be evaluated at an Undiagnosed Diseases Program (UDP).
The Undiagnosed Diseases Programs are spread all over the world and collaborate in the Undiagnosed Diseases Network International UDNI
Read more about International Undiagnosed Diseases Programs (UDPs)
Program 2024
Part 1. Virtual meeting
The Speakers
Mikk & Helene Cederroth, Wilhelm Foundation, Sweden
Domenica Taruscio, Istituto Superiore di Sanità, Italy
Tinatin (Tika) Tkemaladze, Tbilisi State Medical University, Georgia
Department of Clinical Genetics University hospital of Copenhagen, Rigshospitalet, Denmark
Aimé Lumaka, Reference Center for Rare and Undiagnosed Diseases, The Democratic Republic of the Congo
Sigrid Hendriks, VSOP, Netherlands
Helen-Hernandez & Sidney Muchemwa, R69, USA
Shahida Moosa, Rare Disease Genomics In South Africa, South Africa
Manuel-Posada, Espain UDP, Spain
Maria Jesús García Cánovas, D´Genes Murcia, Spain
Emma Palmer, Gene2Care, Australia
Salman Kirmani, The Aga Khan University, Pakistan
Matt Bolz-Johnson, EURORDIS, Germany
Judith Escales, Rare. Open Research in Rare Diseases, France
Yasemin Alanay & Ugur Ozbek,Izmir BioMedicine & Genome Center & Acıbadem University School of Medicine, Turkey
Eric Klee, Mayo Clinic, USA
Lisa Sarfaty, NORD, USA
Matt Spencer & Zoe Morrison, SWAN Clinic, England
Gulcin Gumus, EURORDIS, Spain
Peirong (Rachel) Yang Lingenhag, Switzerland
Sue Baker, Global Nursing Network RD, Western Australia
Tudor Groza, Rare Care Centre, Western Australia
Gareth Baynam, Rare Care Centre, Western Australia
Claudia Gonzaga-Jauregui, International Laboratory for Human Genome Research, LIIGH-UNAM, Mexico
Ann Nordgren, Karolinska Institute, GMS UDN Sweden, Sweden
Wendy van Zell-Stams, Radboud UMC, Netherlands
Program 2024
Part 2, In person meeting, Harvard
9:00 am. EDT
Keynote speaker
Liam Harazim
Welcome
Helene Cederroth
Amy Gray
Moderator
Alexa McCray
Diversity and Beauty in the Undiagnosed Community
Rick Guidotti
UDNF US Programs/Patient Navigation
Michele Herndon
Undiagnosed Diseases Network International, UDNI
William A. Gahl
Undiagnosed Diseases in Low- and Middle Income Countries - The Champion’s Initiative
Mareike Mertens
10-year Anniversary of the International Conference on Rare and Undiagnosed Diseases & Efforts to Uplift Rare Disease Diagnosis in Korea
Jangsup Moon
Facilitating collaborations through the Undiagnosed Hackathon and informatic tool development
Shinya Yamamoto
The Five-Pointed Star of the Children’s Center for
Rare Disease at Dell Medical School
Steve Ekker
UDNI Diagnostic WG
10:40 am EDT
Five minutes break
10:40 am EDT
Undiagnosed Panel Discussion
Amy Gray
Christine McGarvey
Elizabeth Fieg
Helene Cederroth
Shinya Yamamoto
Tenesha Washington
William A Gah
Closing remarks
Amy Gray
Helene Cederroth
Thank you for listening!
Moderator
Alexa McCray
Professor of Medicine, Harvard Medical School
Speakers
Liam Harazim Keynote speaker
Botto, Lorenzo
Medical Geneticist and Epidemiologist, University of Utah
Cederroth, Helene
Founder Wilhelm Foundation - the Undiagnosed International
Ekker, Stephen
Inaugural Director, Children’s Center for Rare Disease at Dell Medical School
Fieg, Elizabeth
Genetic Counselor, Brigham and Women’s Hospital
Gray, Amy
CEO UDNF Undiagnosed Diseases Network Foundation
Gahl, William A. (Bill)
Director of UDP, Bethesda, NIH, USA
Guidotti, Rick
Photographer, Positive Exposure, USA
Herndon, Michele,
Program Director UDNF Undiagnosed Diseases Network Foundation
McCray, Alexa
Harvard Medical School
McGarvey, Christine,
The Pennsylvania State Ambassador for the National Organization of Rare Disorders (NORD)
Moon, Jangsup,
Professor, UDP Seoul National University Hospital, South Korea
Washington, Tenesha
Community Engagement, University of Alabama - Birmingham
Yamamoto, Shinya
Assistant Professor at Baylor College of Medicine, Co-Chair of the Undiagnosed Diseases Network
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Organizers
