Partners Societies and Organizations

 Organizer
Institucional Supporter
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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 Argentina de Genética
    Sociedad Chilena de Pediatria
    Sociedad de Genética de Chile
    Sociedade Brasileira de Pediatria
    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

Alessandra FERLINI
Alessandra FERLINI
Italy Ferrara, Italy
Alexandra HEUMBER
Alexandra HEUMBER
Switzerland Geneva, Switzerland
Ana Laura ROSS
Ana Laura ROSS
Switzerland Geneva, Switzerland
Andreas LANER
Andreas LANER
Germany Munich, Germany
Annick REIN
Annick REIN
Brasil Ramat Gan, Israel
Béla MELEGH
Béla MELEGH
Hungary Pecs, Hungary
Bibiana OLIVEIRA
Bibiana OLIVEIRA
Brasil Porto Alegre, Brazil
Dafne HOROVITZ
Bruce KORF
Brasil Birmingham, USA
Cesar Augustin CRESPI
Cesar Augustin CRESPI
Brasil La Plata, Argentina
Claudia GONZAGA-JAUREGUI
Claudia GONZAGA-JAUREGUI
Brasil Mexico City, Mexico
Dafne HOROVITZ
Dafne HOROVITZ
Brasil Rio de Janeiro, Brazil
David ADAMS
David ADAMS
USA Bethesda, USA
David PEARCE
David PEARCE
USA Sioux Falls, USA
Domenica TARUSCIO
Domenica TARUSCIO
Itália Roma, Itália
Emilio J.A. ROLDAN
Emilio J.A. ROLDAN
Brasil Buenos Aires, Argentina
Eric KLEE
Eric KLEE
USA Rochester, USA
Filippo VAIRO
Filippo VAIRO
Itália Rochester, USA
Fernando GOLDSTEIN
Fernando GOLDSTEIN
Brazil Porto Alegre, Brazil
Gabriela REPETTO
Gabriela REPETTO
chile Santiago, Chile
Gareth BAYNAM
Gareth BAYNAM
Australia Perth, Australia
Guilherme BALDO
Guilherme BALDO
Brazil Porto Alegre, Brazil
Helene CEDERROTH
Helene CEDERROTH
Sweden Stockholm, Sweden
Ignacio ZARANTE
Ignacio ZARANTE
Colombia Bogota, Colombia
Iscia Lopes CENDES
Iscia Lopes CENDES
Brasil Campinas, Brazil
João B. de OLIVEIRA FILHO
João B. de OLIVEIRA FILHO
Brasil Recife, Brazil
Jong Hee CHAE
Jong Hee CHAE
South Korea Seoul,South Korea
Manuel POSADA
Manuel POSADA
Espanha Madrid, Spain
Maria T. ACOSTA
Maria T. ACOSTA
USA Bethesda, USA
Michael ZIMMERMAN
Michael ZIMMERMAN
USA Milwaukee, USA
Mikk CEDERROTH
Mikk CEDERROTH
Sweden Stockholm, Sweden
Nara SOBREIRA
Nara SOBREIRA
USA Baltimore, USA
Natan MONSORES
Natan MONSORES
Brazil Brasilia, Brazil
Olaf BODAMER
Olaf BODAMER
USA Boston, USA
Oleg KVLIVIDZE
Oleg KVLIVIDZE
USATbilisi, Georgia
Pawel BUCZKOWICZ
Pawel BUCZKOWICZ
Canada Toronto, Canada
Ratna PURI
Ratna PURI
India Delhi, India
Roberto GIUGLIANI
Roberto GIUGLIANI
Brasil Porto Alegre, Brazil
Rosa Andrea PARDO
Rosa Andrea PARDO
Chile Santiago, Chile
Salman KIRMANI
Salman KIRMANI
Pakistan Karachi, Pakistan
Salmo RASKIN
Salmo RASKIN
Brasil Curitiba, Brazil
Tammy McALLISTER
Tammy McALLISTER
USA Rochester, USA
Thereza CAVALCANTI
Thereza CAVALCANTI
Brasil Ribeirão Preto, Brazil
Tim YU
Tim YU
USA Boston, USA
Tinatin TKEMALADZE
Tinatin TKEMALADZE
Brasil Tibilisi,Georgia
Tracy DUDDING-BYTH
Tracy DUDDING-BYTH
Australia Waratah, Australia
Wendy van ZEIST-STAMS
Wendy van ZEIST-STAMS
Netherlands Nijmegen, Netherlands
William GAHL
William GAHL
USA Bethesda, USA
×

 

Optional networking activities

We would like to encourage you to subscribe to the networking activities planned for the 14th UDNI Conference: 

1) Welcome Cocktail, that will happen on October 28 at 7:00 pm at the Windsor Marapendi Hotel, in a nice space with an ocean view glass wall, with drinks, appetizers and Brazilian music.

2) Special Networking Evening, which will be held at Rio Scenarium, in the heart of the historical quarter of Rio de Janeiro, on October 30. The venue is a magical 19th century mansion known for its decoration, with a large collection of ancient furniture and objects. There you will enjoy Brazilian music in seven different spaces, spread over three floors. You will be able to taste and experience personalized drinks and specialties of the Brazilian cuisine. Transport will be organized from Windson Marapendi Hotel, leaving at 7pm and returning by 10pm.

    

Registration

  • Registration costs by categories and dates

    • ​Scientific Program (Free) – USD 0.00 (BRL 0.00)

    • Networking Activities (Optional) – Welcome Cocktail and Networking Evening - BRL 500.00 (85 USD) until Aug 28.

  • Registration form

Abstract Submission Guidelines

  1. All abstracts must be presented in English
  2. To submit an abstract, the leading author should be registered at the conference.
  3. There is no limit of abstracts each registered delegate can submit.
  4. The information about abstract acceptance will be provided in a few days after submission.
  5. All abstracts will be presented as posters.
  6. Information on poster format will be provided along with abstract acceptance.
  7. Some abstracts will be selected also for oral presentation.
  8. Information on abstracts selected for oral presentation will be provided by September 28.
  9. Deadline for abstract submission is August 28.
  10. 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.

Abstract Submission Platform

Sponsors

Documents

(pdfs available for download)

Certificates

Certificates of participation and abstract presentation will be available for download after the meeting

Venue

Check event location information

Windsor Marapendi Hotel

Address: Avenida Lúcio Costa, 5400 - Barra da Tijuca, Rio de Janeiro - Brazil

Please, make your reservation now Get Directions

Official Travel Agency

Sightseeing and Tourist Spots

  • Rio de Janeiro, the wonderful city

Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image Image

 

  • Barra da Tijuca map
Barra da Tijuca map

Important travel information

​Vaccination 
No vaccination is mandatory for entry in Brazil, but certain vaccines may be recommended depending on your travel plans. We suggest that you check with your doctor and or travel agency about travel-related vaccinations. Yellow Fever vaccination is not required for visitors staying in Rio de Janeiro, as the city is not considered a risk area.

Visa
Check if a visa is required to enter Brazil, which depends on your citizenship. Although it is not required for citizens of most countries, from April 10, 2025 Brazil requires e-visas from USA, Canadian and Australian citizens, as a reciprocity procedure. To access the e-visa platform kindly visit: www.brazil.vfsevisa.com

Contact

 

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