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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
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All Undiagnosed should have a chance to get a diagnosis

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There are 3 types of undiagnosed

  1. The ones that does have a rare disease but haven't been diagnosed yet

  2. The misdiagnosed

  3. The ones that have a disease not discovered by medical science yet

Speakers
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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

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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

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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

Newsletter

Undiagnosed Day Newsletter

Sign up for the newsletter to get information about the Undiagnosed Day 2023

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Organizers

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Watch the recorded webinar here

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