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Undiagnosed Day 2022

Awareness webinar

A celebration to all living with an Undiagnosed Disease and their loved ones and in memory of the ones lost

Undiagnosed Day 2022

by UDNI & Wilhelm Foundation

29th April 13:30 CEST
Click to watch webinar 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

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SPEAKERS

Baynam, Gareth 

Perth Children’s Hospital, Western Australia

Rare Care, Clinical Centre of Expertise for Rare and Undiagnosed Diseases at Perth Children’s Hospital, Western Australia

Boztug, Kaan 

Ludwig Boltzmann Institute for Rare and Undiagnosed, Austria

Austria UDP

Casanova Might, Cristina 

UDNF Undiagnosed Diseases Network Foundation, USA

Closing remarks

Cederroth, Helene & Mikk

Wilhelm Foundation, Sweden

Welcome, Thank you

Fretwell, Lily

Perth, Australia

Keynote

Gahl, William 

National Institutes of Health, National Human Genome Research Institute, USA

FIrst UDP & UDNI background

Galkute, Milda   

FEDER

Spain Undiagnosed patients

 

Giugliani Rgiugliani, Roberto 

House of Rares, Porto Alegre, Brazil

Brazil undiagnosed

Claudia Gonzaga-Jauregui

Mendelian Genomics & Precision Health Laboratory, Mexico

Beauty and diversity 

Guidotti, Rick

Postive Exposure, USA

Beauty and diversity 

Gumus, Gulcin 

Eurordis, Spain

EURORDIS' involvement in Newborn Screening

Halley, Meghan 

Stanford Center for Biomedical Ethics, USA

Ethics and Undiagnosed Research

Hernandez, Helen W.

KAL Research Initiatives LLC , USA

Diagnostic code for undiagnosed

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Klee, Eric 

Mayo Clinic, Rochester, USA

Undiagnosed pipeline

Kenjiro Kosaki

Keio University, Tokyo Japan

Japan undiagnosed

Nordgren, Ann 

Karolinska UDP, Karolinska University Hospital

Sweden undiagnosed

Olauson, Anders 

Ågrenska

UN Resolution - Undiagnosed

Palmer, Elizabeth  

Sydney Children's Hospital Network, Australia

UDNI Diagnostic WG

Puri, Ratna 

India Undiagnosed

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India

Rajasimha, Harsha 

Indo US Organization for Rare Diseases

IndoUSrare undiagnosed

Renton, Heather 

Syndromes Without A Name (SWAN), Australia

Patient’s perspective 

Schimmenti, Lisa 

Mayo Clinic, Rochester, USA

Undiagnosed in USA

Szajnuk, Gina

Rare and Undiagnosed Network (RUN), Utah, USA

Gina's Story

Taruscio, Domenica

National Centre for Rare Diseases, Rome, National Institute of Health Italy

Welcome, UDNI WGs, Moderator

van Zelst-Stams, Wendy

Department of Human Genetics, Radboud University Medical Center, The Netherlands

Awareness and actions in The Netherlands 

Wiafe, Samuel 

Rare Disease Ghana Initiative

Undiagnosed in Ghana

Wong-Rieger, Durhane 

CORD, Canada

Undiagnosed in Asia

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AGENDA recorded Webinar

Undiagnosed day 2022 - 29th April

13:30 CEST

14:20

Introduction

Lily Fretwell

Helene & Mikk Cederroth

Domenica Taruscio
Rick Guidotti

Anders Olauson

13:55

Asia

Moderator

Durhane Wong-Rieger

Durhane Wong-Rieger

Kenjiro Kosaki

Ratna Puri

Harsha Rajasimha

15:45

UDNI

William Gahl 

Domenica Taruscio

Elizabeth Palmer 

Moderator

Lisa Schimmenti

14:10

Africa

Moderator

Durhane Wong-Rieger

Samuel Wiafe

Parents story

15:00

Australia

Moderator

Lisa Schimmenti

Gareth Baynam

Heather Renton

Europe

Moderator

Domenica Taruscio

Gulcin Gumus

Wendy van Zelst-Stams 

Ann Nordgren

Kaan Boztug

Milda Galkute  

 

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Organizers

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Images by

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Sponsored by

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Collaborators

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