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Invitation

The Undiagnosed Diseases Network International (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
Fabrizio Gomes Barbosa
Glória Souza
Izabel Marques de Souza
Roberto Giugliani (Chair)
Vicky Simon

  • Local Scientific Committee (Brazil)

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

  • International Scientific Advisors

Annick Rein (Israel)
Bruce Korf (USA)
Carolina Fishinger (Brazil)
Cesar Augustin Crespi (Argentina)
Claudia Gonzaga-Jauregui (México)
David Adams (USA)
Filippo Pinto e Vairo ( 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
    Iberoamericana Academy of Pediatric Neurology (AINP)
    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 Windsor Marapendi
Vicky Simon Consulting and Events
Visit Rio

Important dates

  • Sep 28 – Headquarters hotel reservation ends

  • Oct 28 – 14th CONFERENCE begins

Promoters and Organizers

 

- Undiagnosed Disease Network International

- Wilhelm Foundation

- Genetics for All Institute

Program at a Glance

14th UDNI Conference​ – PROGRAM AT A GLANCE

OCTOBER 28 (TUESDAY)

19:00

Welcome Session (specific registration needed)

OCTOBER 29 (WEDNESDAY)

08:00-09:00

Session 1: Welcome, Origins of UDNI, from UDPs to Hackathons

09:00-10:00

Session 2: Online Tools to Diagnose the Undiagnosed

10:00-10:30

Coffee-break / Poster Viewing

10:30-12:00

Session 3: Highlights of UDPs and Hackathons Worldwide

12:15-13:15

Lunchtime Sponsored Symposium - ULTRAGENYX and CENTOGENE

13:30-14:30

Session 4: Presentation of Selected Abstracts (Emerging Research 1)

14:30-16:00

Session 5: Policy Innovations - Strategies to Tackle the Undiagnosed

16:00-16:30

Coffee-break / Poster Viewing

16:30-18:00

Session 6: Innovative Approaches for Undiagnosed Diseases

18:00-19:00

Session 7: Case Reports - Solved and Unsolved Cases

OCTOBER 30 (THURSDAY)

08:00-10:00

Session 8: Networks, Training and Education on Undiagnosed Diseases

10:00-10:30

Coffee-break / Poster Viewing

10:00-12:00 Proficiency Test (Specific Application Needed)

10:30-12:00

Session 9: Genomic Standards and Population Genomics

12:15-13:15

Lunchtime Sponsored Symposium - ASTRAZENECA

13:30-14:30

Session 10: Presentation of Selected Abstracts (Emerging Research 2)

14:30-16:00

Session 11: How to create, structure and fund a UDP program

16:00-16:30

Coffee-break / Poster Viewing

16:30-18:00

Session 12: From Diagnosis to Therapies

18:00-19:00

Session 13: Closing Session: Abstract Prize, Next Conference, Closure

19:30

Buses depart to Networking Activity (specific registration needed)

 

OCTOBER 31 (FRIDAY)

08:30-14:00

UDNI Board & Committee Meetings (open to UDNI members and non-members)

 

Program in Detail

UDNI PROGRAM 2025

Advisors, Faculty and Committee Members

Alessandra FERLINI
Alessandra FERLINI
Italy Ferrara, Italy
Alexandra HEUMBER
Alexandra HEUMBER
Switzerland Geneva, Switzerland
Andreas LANER
Andreas LANER
Germany Munich, Germany
Ana Laura ROSS
Anna Laura ROSS
Switzerland Geneva, Switzerland
Annick REIN
Annick REIN
Brasil Ramat Gan, Israel
Antoine DAHER
Antoine DAHER
Brazil São Paulo, Brazil
Béla MELEGH
Béla MELEGH
Hungary Pecs, Hungary
Bibiana OLIVEIRA
Bibiana OLIVEIRA
Brasil Porto Alegre, Brazil
Dafne HOROVITZ
Bruce KORF
Brasil Birmingham, USA
Carolina FISHINGER
Carolina FISCHINGER
BrazilPorto Alegre,Brazil
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
Daniel MacArthur
Daniel MacARTHUR
AustraliaMelbourne, Australia
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
Fernando GOLDSTEIN
Fernando GOLDSZTEIN
Brazil Porto Alegre, Brazil
Filippo VAIRO
Filippo PINTO e VAIRO
Itália Rochester, USA
Fulya TAYLAN
Fulya TAYLAN
Sweden Stockholm, Sweden
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
Ipek Balanan
Ipek BALABAN
TurkeyIstanbul, Turkey
Iscia Lopes CENDES
Iscia Lopes CENDES
Brasil Campinas, Brazil
Janini LEWIS
Janine LEWIS
USA Silver Spring, USA
João B. de OLIVEIRA FILHO
João Bosco 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 Teresa ACOSTA
USA Bethesda, USA
Mary Jane DYKEMAN
Mary Jane DYKEMAN
Canada Toronto, Canada
May Christine V MALICDAN
May Christine V MALICDAN,
USA Bethesda, USA
Michael ZIMMERMAN
Michael ZIMMERMANN
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
Ömer Bahadir Kiliç
Ömer Bahadir KILIÇ
Turkey Istanbul, Turkey
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
Tinatin TKEMALADZE
Tinatin TKEMALADZE
Brasil Tibilisi,Georgia
Tracy DUDDING-BYTH
Tracy DUDDING-BYTH
Australia Waratah, Australia
Wendy van ZEIST-STAMS
Wendy van ZELST-STAMS
Netherlands Nijmegen, Netherlands
William GAHL
William GAHL
USA Bethesda, USA
×

 

Language

The official language of the conference is English (no translation will be provided).

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

    

  

  

   

 Oxford Nanopore

 

      

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

Sightseeing and Tourist Spots

  • Rio de Janeiro, the wonderful city

 

  • 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

Electricity
The electrical voltage at the Windsor Hotel is 220/240 V. The standard electrical sockets in Brazil are Type N, but many European Type C plugs will fit without an adapter.

Conference Venue and Program
The conference will be held at the Windsor Marapendi Hotel, located at Av. Lúcio Costa, Barra da Tijuca, Rio de Janeiro, RJ, Brazil, 22630-012. The hotel's phone number is +55 21 2195 9900.

Credencials
You can pick up your event credentials at the venue's basement on October 28th from 4:00 PM to 7:00 PM or on October 29th starting at 7:00 AM.
The scientific program begins promptly at 8:00 AM on October 29th.

Transfers Sugestions

Airport and Bus Station Transfers
The official conference travel agency, HAVAS Creative Tours, offers a transfer service for participants. You can book this service through the UDNI 2025 website using the link below:
https://havasbrazil.com.br/the-international-network-for-undiagnosed-diseases-udni/

A private transfer for up to two people costs BRL 380.00 / US$ 70.00. If you are traveling with more than two people on the same flight, please contact sales@havasbrazil.com.br to arrange for a larger vehicle.
Alternatively, you can use services available directly at the airports and bus station. Here are our recommendations:

GIG – Antonio Carlos Jobim Airport (International and Domestic)

  • Uber: There is a dedicated pickup point for Uber passengers on the arrivals level. To find it, exit the arrivals area and turn left.
  • Taxi: We recommend using the executive taxi service with a pre-paid voucher. You can purchase these vouchers at the Coopertramo, Coopatur, Transcopass, or Transcootur counters located in the domestic and international arrivals areas. Executive taxis depart from Level 0, Door B, near domestic arrivals.

SDU – Santos Dumont Airport (Domestic Only)

  • Uber: The Uber Lounge is located in the Bossa Nova Mall, next to the airport. This is the only authorized pickup location. Exit arrivals, turn left, cross the departure terminal, and follow the signs to the mall to find the lounge.
  • Taxi: We recommend using the executive taxi service with a pre-paid voucher. You can purchase these vouchers at the Coopertramo, Coopatur, Transcopass, or Transcootur counters in the arrivals areas. Executive taxis depart from the arrivals area.

Novo Rio Bus Station

  • Uber: The official Uber pickup lounge is on Floor G1 of the parking garage, next to the terminal. You'll need to use the walkway that connects the terminal to the garage to get there.
  • Taxi: We recommend using the executive taxi service. You can find the counters for special taxi cooperatives in the arrivals hall.

Note: The fare to Barra da Tijuca ranges from US$ 30 to US$ 60, depending on the transport type (Uber or executive taxi), route, vehicle, and time of day.

Contact

Promoted by

Promoted by IGPT

Organizer

Organizer Vicky

Institutional Support

Support VisitRio

Institutional Support

Support UDNI

Institutional Support

Support Wilhelm