top of page

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.



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


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
3K6A2169 (2).jpg

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


Helene Cederroth 
Amy Gray


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!



Alexa McCray

Professor of Medicine, Harvard Medical School


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


Undiagnosed Day Newsletter

Sign up for the newsletter to get information about the Undiagnosed Day 2025

Thanks for submitting!



bottom of page