Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy (C2)

Scientific Organizers: William A. Gahl and Christoph Klein


March 5—8, 2017

Fairmont Copley Plaza, Boston, Massachusetts, USA


Sponsored by Moderna Therapeutics and Vertex Pharmaceuticals Incorporated


BEWARE of booking lodging through companies unaffiliated with Keystone Symposia. Click here for more details.

Keystone Symposia is committed to maintaining a positive and respectful environment at its meetings. To this end, please review and comply with our policies.

** Meeting has ended **

Discounted Abstract Deadline: November 2, 2016


Abstract Submission Fee: 100.00 USD*
Submission by this date receives 50.00 USD discount.
*50.00 USD will be applied to Registration Fee when you register

Abstract Details: It is best to submit your abstract early. Abstract and registration spaces are limited and may fill prior to the abstract or discounted registration deadlines. Submitting an abstract does not constitute or guarantee registration.

Submitting your abstract early allows us to:
  • submit your abstract to organizers to be considered for a short talk
  • accept your abstract online
  • include your abstract on our website and in our secure mobile app
  • reserve your space at the meeting for a poster presentation.**
**Submitting an abstract does not constitute or guarantee registration.
(The Abstract Deadline: is December 6, 2016)

Global Health Travel Award Deadline:


Global Health Travel Award Details: You MUST complete your Global Health Travel Award appplication by the Global Health Travel Award Deadline and complete the other required steps (verify your contact information and submit a recommendation letter) to be considered for a travel award.


Click here to learn more about Global Health Travel Awards.

Scholarship Deadline: November 2, 2016


Scholarship Details: You MUST submit your abstract by the Scholarship Deadline and complete the other required steps (submit a scholarship application and submit a mentor letter) to be considered for a scholarship.

Click here to learn more about Scholarships.

Abstract Deadline: December 6, 2016


Abstract Submission Fee: 100.00 USD*
*50.00 USD will be applied to Registration Fee when you register

Details: It is best to submit your abstract early. Abstract and registration spaces are limited and may fill prior to the abstract or discounted registration deadline. Submitting an abstract does not constitute or guarantee registration.

Submitting your abstract by the Abstract Deadline allows us to:
  • submit your abstract to organizers to be considered for a short talk
  • include your abstract on our website and in our secure mobile app
  • reserve your space at the meeting for a poster presentation.**
**Submitting an abstract does not constitute or guarantee registration.
Abstracts submitted after the Abstract Deadline will NOT be considered for a short talk.

(Discounted Abstract Deadline: is November 2, 2016)

Discounted Registration Deadline: January 10, 2017


Registration Fee: 745.00 USD* (includes 150.00 USD discount)
Student Registration Fee: 520.00 USD* (must complete student verification form)

*Includes 50.00 USD of your abstract submission fee

After the Discounted Registration Deadline:


Registration Fee: 895.00 USD*
Student Registration Fee: 670.00 USD* (must complete student verification form)

*Includes 50.00 USD of your abstract submission fee

Registration spaces are limited and may fill prior to discounted registration deadline.

Please be advised that a few meeting participants have received calls and emails from a number of different housing services - "Exhibitors Housing Services", "Global Housing", etc. THESE COMPANIES ARE NOT AFFILIATED WITH KEYSTONE SYMPOSIA and are not authorized by Keystone Symposia to contact you. These companies may tell you that the meeting is filling and seek to take your lodging reservation and obtain your credit card number. We highly recommend that you not make a reservation with these companies or any other housing service! These companies' representations to participants have been misleading. Please report to Keystone Symposia any calls or correspondence you might have received and book only through the lodging link on our website, an established travel agency, or directly with the hotel.

Meeting Summary



Of the 7000 known rare diseases, only a fraction have their molecular and mechanistic bases delineated, and many other diseases have yet to be discovered. Characterization of these disorders will reveal new biochemical pathways and cell biological processes, point to potential drug targets, and provide hope for millions of affected individuals. This meeting will address approaches and best practices in pursuing rare and undiagnosed disorders, limitations in data sharing as a barrier to new disease discovery, and examples of successful descriptions of new diseases, mechanisms, and treatments. Specific aims include fostering the development of expertise in rare diseases and the definition of their natural histories; an international network of scientists and physicians collaborating on new disease discovery by sharing phenotypic and sequence data; and new therapeutic approaches based upon rare and new disease mechanisms. Through this meeting, participants should become familiar with rare and undiagnosed disease programs, acquire insights into new disease mechanisms, learn about potential therapeutic targets, and establish collaborations that enhance rare disorder expertise and new disease discovery. The meeting will bring together physicians who are expert in rare disorders with scientists who know metabolic pathways and mechanisms, advancing understanding and therapy. A desired outcome of the meeting includes developing lists of clinical and basic research experts for synergistic collaborations, and creating an international organization to perpetuate the joint investigation of rare and new diseases.