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

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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

Undiagnosed Day 2022

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

Speakers

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

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

Agenda

AGENDA recorded Webinar