14th UDNI Conference

Partners Societies and Organizations

Invitation

The International Network for Undiagnosed Diseases (UDNI) was established in 2014 as a collaborative initiative spanning multiple countries. Its primary mission is to improve diagnostic rates for individuals living with undiagnosed conditions.

The UDNI brings together clinical and research centers renowned for their expertise in rare diseases. This global network fosters interdisciplinary collaboration, facilitates knowledge sharing, and accelerates the translation of research findings into clinical practice to improve patient care.

Since its inception, the UDNI has already organized 13 successful conferences, serving as a platform for sharing breakthroughs and fostering collaboration. For the first time, the UDNI Conference will take place in the Southern Hemisphere, hosted in Latin America's dynamic and safe Barra da Tijuca neighborhood, in Rio de Janeiro, Brazil. This vibrant area is known for its stunning beaches, modern amenities, and welcoming atmosphere, making it an ideal setting for the conference. Rio de Janeiro, Brazil's former capital, is internationally celebrated for its breathtaking natural beauty, iconic landmarks, and rich cultural heritage.

Roberto Giugliani / Chair

Organization

Local Organizing Committee (Brazil)

Dafne Horovitz (Fundação Oswaldo Cruz)
Fabrizio Gomes Barbosa (Genetics for All Institute)
Izabel Marques de Souza (Genetics for All Institute)
Roberto Giugliani (Chair)

Local Scientific Committee (Brazil)

Bibiana Oliveira
Filippo Pinto e Vairo
Thereza Loureiro
Roberto Giugliani (Chair)

International Scientific Advisors

Annick Rein (Israel)
Bruce Korf (USA)
Cesar Augustin Crespi (Argentina)
Claudia Gonzaga-Jauregui (México)
David Adams (USA)
Gabriela Repetto (Chile)
Gareth Baynam (Australia
Ignacio Zarante (Colombia)
Iscia Lopes Cendes (Brazil)
Nara Sobreira (USA)
Salmo Raskin (Brazil)
Wendy vanZelst-Stams (Netherlands)

UDNI International Board

David Pearce (USA)
Domenica Taruscio (Italy)
Eric Klee (USA)
Helene Cederroth (Sweden)
Manuel Posada (SPAIN)
Olaf.Bodamer (USA)
Roberto Giugliani (Brazil)
Salman Kirmani (Pakistan)
William Gahl (USA) – Chair

Partners Societies and Organizations

Asociación Colombiana de Médicos Genetistas y Medicina Genômica
Estudo Colaborativo Latinoamericano de Malformaciones Congênitas
Genetics for All Institute
Sociedade Brasileira de Genética Médica e Genômica
Sociedade Brasileira de Triagem Neonatal Erros Inatos do Metabolismo
Sociedad Chilena de Pediatria
Sociedad de Genética de Chile
Sociedad Argentina de Genética
Red Latinoamericana de Genética Humana
Undiagnosed Disease Network International
Wilhelm Foundation
Partners and Vendors

Eventize Tecnologia
Goya Events
Hotel Windson Marapendi
Vicky Simon Consulting and Events

Important dates

May 28 – Headquarters hotel reservation opens
June 28 – Registration opens
June 28 – Abstract submission opens
Aug 28 – Abstract submission ends
Sep 13 – Headquarters hotel reservation ends
Sep 28 – Registration ends
Oct 28 – On-site registration opens

Promoters and Organizers

- Undiagnosed Disease Network International

- Wilhelm Foundation

- Genetics for All Institute

Program

14th UDNI Conference – PRELIMINARY PROGRAM

OCTOBER 28

19:00

Welcome Cocktail

OCTOBER 29

08:00	Opening Session: Welcome, Origins of UDNI, from UDPs to Hackathons
09:00	Panel 1: Online Tools to Diagnose the Undiagnosed
10:30	Panel 2: UDPs in the Five Continents
12:15	Lunchtime Sponsored Symposium 1
13:30	Platform Presentation of Selected Abstracts 1
14:30	Panel 3:Policy Innovations: National Strategies to Tackle the Undiagnosed
16:30	Panel 4: Innovative Approaches for Undiagnosed Diseases
18:00	Case Reports: Solved and Unsolved Cases

OCTOBER 30

08:30	Panel 5a: Training and Education in Undiagnosed Diseases
08:30	Panel 5b: Genetic Counseling on Undiagnosed Diseases
10:30	Panel 6: Genomic Standards and Population Genomics
12:15	Lunchtime Sponsored Symposium 2
13:30	Platform Presentation of Selected Abstracts 2
14:30	Panel 7: How to create, develop and fund a UDP program
16:30	Panel 8:From Diagnosis to Precision Therapies: Translational Pathways
18:00	Closing Session: Abstract Prize, Presentation of Next Conference, Closure

OCTOBER 31

08:30	UDNI Board & Committee Meetings
14:00	Conference Adjourns

Detailed Program - pdf

Advisors, Faculty and Committee Members

Annick REIN

Ramat Gan, Israel

Bibiana OLIVEIRA

Porto Alegre, Brazil

Bruce KORF

Birmingham, USA

Cesar Augustin CRESPI

La Plata, Argentina

Claudia GONZAGA-JAUREGUI

Mexico City, Mexico

Dafne HOROVITZ

Rio de Janeiro, Brazil

David ADAMS

Bethesda, USA

Dave PEARCE

Sioux Falls, USA

Domenica TARUSCIO

Roma, Itália

Eric KLEE

Rochester, USA

Filippo VAIRO

Rochester, USA

Gabriela REPETTO

Santiago, Chile

Gareth BAYNAM

Perth, Australia

Helene CEDERROTH

Stockholm, Sweden

Ignacio ZARANTE

Bogota, Colombia

Iscia Lopes CENDES

Campinas, Brazil

Manuel POSADA

Madrid, Spain

Nara SOBREIRA

Baltimore, USA

Oleg KVLIVIDZE

Tbilisi, Georgia

Olaf BODAMER

Boston, USA

Roberto GIUGLIANI

Porto Alegre, Brazil

Salman KIRMANI

Karachi, Pakistan

Salmo RASKIN

Curitiba, Brazil

Thereza CAVALCANTI

Ribeirão Preto, Brazil

Tinatin TKEMALADZE

Tibilisi,Georgia

Wendy van ZEIST-STAMS

Nijmegen, Netherlands

William GAHL

Bethesda, USA

Registration

Registration opens on June 28

Registration costs by categories and dates
Registration form

Abstract Submission Guidelines

1) To submit an abstract, the leading author should be registered at the conference.
2) There is no limit of abstracts each registered delegate can submit.
3) The information about abstract acceptance will be provided in a few days after submission.
4) All abstracts will be presented as posters.
5) Information on poster format will be provided along with abstract acceptance.
6) Some abstracts will be selected also for oral presentation.
7) Information on abstracts selected for oral presentation will be provided by September 28.
8) Deadline for abstract submission is August 28.
9) Please prepare your abstract according to the following specifications:

Title:

Maximum 120 characters (including spaces).
Should be concise and accurately reflect the content of your abstract.
The text can be pasted in the electronic form.

Body:

Maximum of 2500 characters (including spaces).
The body should clearly state:
The purpose or objective of your research.
The methods used. Key results or findings.
Conclusions and their significance.
The text can be pasted in the electronic form.

Keywords:

Provide 3 to 6 keywords separated by coma or semicolon.
These should be relevant terms that describe the core topics of your research.
The text can be pasted in the electronic form.

Authors:

Maximum of 16 authors per abstract (leading author + up to 15 co-authors).
The leading author should be registered at the conference.
The leading author will be able to login in the abstract submission platform with the email address used for registration.
The leading author will have to provide name and institutional affiliation of the co-authors.