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Future Directions for Undiagnosed Diseases Research: The UDN and Beyond

Undiagnosed Diseases Network (UDN)

March 21, 2016

6001 Executive Blvd.
Room C
Rockville, Maryland 20852

On March 21, 2016, the National Institutes of Health (NIH) sponsored a workshop - Future Directions for Undiagnosed Diseases Research: The UDN and Beyond  - at 6001 Executive Blvd., Rockville, Maryland.

Goal: To convene a group of stakeholders in and outside the current UDN organization to review thoughts on the UDN and recommendations on possible continuation. Results of the Request for Information (RFI), NOT-RM-16-001, and experience with patients, to date, will be presented. A draft recommendation about continuation will be prepared.

Tweets from the Workshop: #UDNConnect PDF file
Workshop Report PDF file
UDN Background Document PDF file
UDN Background Supplement PDF file



Time Topic Presenters/Moderators
8:00 a.m. Call to Order, Introductions
YouTube video Video
Anastasia Wise
History and Background
8:10 a.m. Welcome, context, history of program
YouTube video Video (Green)

YouTube video Video (Koroshetz)
Eric Green

8:25 a.m. Lessons from the Undiagnosed Diseases Network
YouTube video Video
William Gahl
8:40 a.m. Results of RFI and Goals of the Workshop
YouTube video Video
Anastasia Wise
9:00 a.m. Experience of a Recent Patient
YouTube video Video
Brendan Lee
Current Opportunity: Six Questions
(See Draft Questions for more detail.)
9:25 a.m.

Question 1: Intensive Clinical Evaluation

YouTube video Video (Mamounas)

YouTube video Video (MacRae)

YouTube video Video (Powell)

YouTube video Video (Mink)


Framer: Laura Mamounas
UDN Perspective: Calum MacRae
Outside Expert Perspective: Cynthia Powell
Moderator/Summarizer: Jonathan Mink
10:05 a.m. Break
10:20 a.m. Question 2: Transitions of Care
YouTube video Video (Gupta Dayal)

YouTube video Video (Eng)

YouTube video Video (Berry)

YouTube video Video (Kreuger)
Framer: Jyoti Gupta Dayal
UDN Perspective: Christine Eng
Outside Expert Perspective: Susan Berry
Moderator/Summarizer: Darcy Kreuger
11:00 a.m. Question 3: Patient and Family Partnership
YouTube video Video (Mulvihill)

YouTube video Video (Shashi)

YouTube video Video (Appell)

YouTube video Video (Hall)
Framer: John Mulvihill
UDN Perspective: Vandana Shashi
Outside Expert Perspective: Donna Appell
Moderator/Summarizer: Judith Hall
11:40 a.m. Question 4: Training, Sharing and Collaboration
YouTube video Video (Loomis)

YouTube video Video (Ramoni)

YouTube video Video (Cohn)

YouTube video Video (Brown)
Framer: Carson Loomis
UDN Perspective: Rachel Ramoni
Outside Expert Perspective: Ronald Cohn
Moderator/Summarizer: Marishka Brown
12:20 p.m. Lunch
1:20 p.m. Question 5: The Virguous Cycle and Integrating Data
YouTube video Video (Krasnewich)

YouTube video Video (Koeller)

YouTube video Video (Prescott)

YouTube video Video (Mink)
Framer: Donna Krasnewich
UDN Perspective: David Koeller
Outside Expert Perspective: Stephen Prescott
Moderator/Summarizer: Jonathan Mink
2:00 p.m. Question 6: Moving the UDN Forward
YouTube video Video (Eckstein)

YouTube video Video (Hamid)

YouTube video Video (Korf)

YouTube video Video (Scheuner)
Framer: David Eckstein
UDN Perspective: Rizwan Hamid
Outside Expert Perspective: Bruce Korf
Moderator/Summarizer: Maren Scheuner
3:00 p.m. Break
Panel of Experts' Perspectives 
(5-minute comments each, then 30 minutes discussion
3:15 p.m.   


YouTube video Video

Panelist: David Flannery

Topic: Genetic Blindness: UDN 2016

YouTube video Video

Panelist: Irene Maumenee

Topic: Advocates and Patients/Families

YouTube video Video

Panelist: Paul Melmeyer

Topic: Academic Medical Center

YouTube video Video

Panelist: Wendy Chung
Open Discussion
YouTube video Video
4:15 p.m. Future Directions and Prioritizing Opportunities
YouTube video Video
Anastasia Wise

What are the best opportunities/justifications for continuing the UDN into phase II?
What should be emphasized?  What can be deleted?  What should be added? 
What opportunities should be prioritized?

5:00 p.m. Draft Recommendations, Summary and Adjourn (ending at 5:30 p.m.)

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Draft Questions

  1. Intensive Clinical Evaluation: What benefits and components of the UDN clinical evaluation are most important clinically and scientifically? How can the clinical evaluation be optimized to ensure consultants have time to deliberate and improve diagnostic evaluations for the benefit of the patients? Should clinical sites have focus areas of clinical expertise?
  2. Transitions of Care: When is a UDN evaluation "complete"? What is the appropriate management of cases where a diagnosis is not made?  How long are patients followed?  What patient-centered outcomes should be documented? 
  3. Patient and Family Partnership: What are the priorities going forward? What can the UDN uniquely do?  How much should patients/families be engaged in the UDN (self-phenotyping, patient pages, outreach, and return of results)?
  4. Training, Sharing, and Collaboration: How can the UDN continue to connect the data generated to existing resources and databases? What role and level of support should collaborations have? Collaborations include: collaborative clinical sites, gene function studies, and scientific research collaborations with the UDN.  Should the UDN become more international? Should the UDP training component be continued, changed, or expanded to the UDN as a whole to disseminate the UDN model?
  5. The Virtuous Cycle and Integrating Data: How can the UDN continue to foster synergistic interactions among clinical and research communities? What are the best strategies to optimize recruiting basic scientists with appropriate expertise to the study of candidate clinical cases?  How can integrating data help the UDN model become a community standard of clinical care?
  6. Moving the UDN Forward: What are the end goals for the UDN?  What can the UDN uniquely do?  What is the vision/mission?  What is the best strategy to optimize the outcomes from the UDN in both clinical evaluation and discovery (diagnoses and research)? How will the UDN be sustained without CF support and how do we get there? What is the advantage of being a network?

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Last Updated: April 29, 2016