Groups within UDNI

UDNI Program Committee Group: Dario Roccatello (Italy), William Gahl (USA), Helene and Mikk Cederroth (Sweden),  Bela Melegh (Hungary), Paul Lasko (Canada), Domenica Taruscio (Italy)

In brief: The UDNI Program Committee consists of 7 members, i.e., representatives of the 4 membership categories, the host institution, the funder (currently the Common Fund), and the Wilhelm Foundation. Linking the Program to a scientific meeting is considered beneficial, in particular to justify participant travel. The UDNI has no objections to industry participation in its general meetings.

UDNI Communication Group: Domenica Taruscio (Chair, Italy), Rumen Stefanov (Bulgaria), Stephen Groft (USA), Helene and Mikk Cederroth (Sweden), William Clyde Partin (Georgia). Vincenzo Nigro (Italy), Bela Melegh (Hungary), Paul Melmeyer (USA), Ugur Ozbek (Turkey), Shinya Yamamoto (USA), Vanessa Boulanger (USA), Manuel Posada (Spain), Marco Salvatore (Italy)

UDNI ISS Comunication Group Team: Marco Salvatore, Agata Polizzi, Gianluca Ferrari, Domenica Taruscio

In brief: The Communications Committee is responsible for coordinating UDNI information transfer. Recommendations for the current website include adding a patient section, changing the membership requirements on the website to conform to the non-clinician categories, providing information on how to apply to the UDNI, adding members’ profiles and photos, and posting slide sets about the UDNI. Consideration is being given to developing a listserv similar to Metab-l and a newsletter. The UDNI does not have an official journal, but is partner with established journals (e.g., EJHG, AJHG), in particular to provide patients’ perspectives. One responsibility of the Communications Committee is outreach and solicitation of membership from other countries through engagement with, for example, Global Genomic Medicine Collaborative, professional societies, presentations at RDCRNs, CTSAs, ERN, and IRDiRC.

UDNI Membership Committee: Eric Klee (Chair, Mayo Clinic USA), William Gahl (USA), Helene Cederroth (Sweden), Domenica Taruscio (Italy), Paul Lasko (Canada), Bela Melegh (Hungary), Anastasia Wise (USA), Marco Salvatore (Italy).

In brief: The UDNI Membership Committee reviewes all applications for membership and accept new members on a rolling basis. On a regular basis, and no less often than once a year, all applicants who meet the membership criteria are presented to the full membership for approval; this may be done by e-mail. 

UDNI Functional Study Group: Eric Klee (Chair, Mayo Clinic USA), Shinya Yamamoto (USA), May C. V. Malicdan (USA), Andy Golden(USA), Giorgio Casari (Italy), Stephen Meyn (USA), Aurora Pujol Onfre (Spain), Jane Juussola (USA), Domenica Taruscio (Italy), Srinivasan Sakthivel (India), Raquel Vaz (Sweden).

In brief: The purposes of the Functional Research Working Group are to help clinicians find research collaborators and to submit cases to experts for opinions; this is a service group.The Working Group investigates best practices for achieving these goals, and coordinates with the Data Sharing Working Group to prevent duplicative efforts.

UDNI Data Sharing Group: David Adams (USA)(Chair), Alexa McCray (USA), Dusica Babovic-Vuksanovic (USA),Lorenzo Botto (USA), Virginie Bros-Facer (Eurordis)
Orion Buske (Canada), Bruce Korf (USA), Kenjiro Kosaki (Japan), Manuel Posada (Spain), Marco Salvatore (Italy), Henrik Stranneheim (Sweden), Domenica Taruscio (Italy)
Matt Wheeler (USA) 

In brief: The purpose of the Data Sharing Working Group is to make recommendations regarding UDNI sharing that involves rules of submission, storage and access. Membership in this Working Group should include different types of users and contributors of shared data and materials. Considerations for data sharing recommendations include the benefits of compiling UDNI diagnoses, the value of using HPO terms and gene names for searching capability, governmental restrictions on data sharing, the willingness of families to share, and involvement of clinicians.

UDNI Patient Engagement Group: Gulcin Gumus (EURORDIS), Helene Cederroth (Wilhelm Foundation), Debbie Drell (NORD)

In brief: The purpose of the Patient Engagement Working Group is to provide a patient perspective to issues like data sharing and to offer clarity and transparency. This requires mutual trust and involves the presence of a patient representative on the Governing Board.

UDNI Genetic Counseling Group: Stephanie Broley (Australia), Janine Lewis (USA), Helene Cederroth (Wilhelm Foundation), Lorenzo Botto (USA)

In brief: The purpose of the Genetic Counseling working group is to address the genetic counseling needs of patients and their families who participate in an Undiagnosed Diseases Program.

Through engagement with patients and families as well as multiple other stakeholders, the group considers information, psychosocial, resource, planning, research participation and networking needs during and after participation in a UDP and works towards developing solutions to meet those needs.

UDNI Educational Group: Béla Melegh (Chair, Hungary), Bruce Korf (co-chair, USA), Simone Baldovino (Italy), Olaf Bodamer (USA), Gareth  Gareth (Australia), Paul F. Lasko (Canada), Elizabeth Palmer (Australia), Ratna Puri (India), Domenica Taruscio (Italy), Wendy van Zelst-Stams (The Netherlands)

In brief: The purpose of the Educational Group  is to address the educational needs of the scientific community involved in undiagnosed diseases.

UDNI Developing Countries Group:  Co-Chairs: Domenica Taruscio (Italy), Manuel Posada (Spain), Samuel Wiafe (Ghana), Olaf Bodamer (USA). Members: Yasemin Alanay (Turkey), Maleeha Azam (Pakistan), Gareth Baynam (Australia), Helene Cederroth (Sweden), Claudio Carta (Italy), Laura Lee Cellai (Italy), Eva Maria Cutiongco-de la Paz (Philippines), Vajira Dissanayake (Sri Lanka), Vanessa Romero (Ecuador), William Gahl (USA), Roberto Giugliani (Brazil), Claudia Gonzaga-Jauregui (Mexico), Stephen Groft (USA), Dineshani Hettiarachchi (Sri Lanka), Saumya Shekhar Jamuar (Singapore), Oleg Kvlividze (Georgia), Guida Landoure (Mali), Aimé Lumaka (DR Congo), Bela Melegh (Hungary), Ugur Ozbek (Turkey), Ratna Dua Puri (India), Marco Salvatore (Italy), Vinod Scaria (India), Vorasuk Shotelersuk (Thailand), S. Sciascia (Italy)

In brief:  The purpose of this Working Group is to address the issues (difficulties and opportunities) for providing diagnoses to patients with undiagnosed and rare diseases in Developing Countries; to cooperate with national experts in the achievement of new diagnoses; to build local capacity (i.e., including training courses) so that correct diagnosis becomes the standard of care in these settings.  Noticeably 19 Countries joined the Group to implement international cooperation and to share experiences and expertise.

UDNI ISS Developing Countries Group Team: Domenica Taruscio, Claudio Carta, Laura Lee Cellai, Marco Salvatore

UDNI Diagnostic Working Group:

Co-chairs: Ann Nordgren (Sweden); Lorenzo Botto (USA) and Emma Palmer (Australia).

Coordinator: Fulya Taylan

An expanding working group of more than 36 researchers from 10 countries.

 In brief: To provide support and an opinion to local Undiagnosed Disease Programs (UDP) in order to:

- Accelerate diagnoses for more families
- Support developing undiagnosed disease programs particularly in lower resource areas and share knowledge and skills
- Promote discovery and expand global medical knowledge

UDNI-DWG short video presentation from the Undiagnosed Day 2022