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RARE AND UNDIAGNOSED DISEASES:
Discovery and Models
of Precision Therapy

Scientific Organizers:
William A. Gahl and Christoph Klein

Date Dates:
March 5–8, 2017

Location Location:
Boston, Massachusetts, USA
Apply for a scholarship and save on the abstract submission fee by November 2, 2016.

Submit abstracts for short talk consideration no later than December 6, 2016.
SUBMIT ABSTRACT
APPLY FOR SCHOLARSHIP

Of the 7,000 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 conference 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 conference 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 conference 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.

In summary, this conference will:

  • Address approaches and best practices in understanding rare and undiagnosed disorders;
  • Foster collaborations among scientists, physicians, advocacy groups and government agencies involved in rare disease study around the world by sharing phenotypic and sequencing data;
  • Promote the creation of new therapeutic approaches based on rare and new disease mechanisms.

The three-day conference will consist of sessions focused on the following topics:

  • CRISPR/cas9; iPS; Embryonic Stem Cells
  • Mechanisms of Rare Disease
  • New Disease Discovery
  • The Needs of Rare and Undiagnosed Disease Patients
  • Therapeutics for Rare Diseases
  • Late-Breaking Discoveries and Technological Underpinnings of Rare and Undiagnosed Diseases Research

The conference will be of value to those working in the fields of:
Cardiovascular Disease • Cell Biology • Drug Discovery • Genetics • Genomics • Immunology • Metabolic Disease • Neurobiology

REGISTER FOR THE CONFERENCE
DOWNLOAD CONFERENCE FLYER

Keystone Symposia conferences offer:

  • A retreat-like atmosphere
  • An intimate environment
  • Interactive poster sessions
  • Exchange of ideas and experiences
  • Access to experts during and after talks
  • Short talk slots for breakthroughs and up-and-coming/junior investigators
  • Free time for recreation and collaboration-building
ADD SYMPOSIA DEADLINES TO CALENDAR

Confirmed Speakers
(as of Oct 20, 2016)

Anne G. Bang, Sanford Burnham Prebys Medical Discovery Institute, USA
Craig D. Blackstone, National Institutes of Health, USA
Kym Boycott*, CHEO Research Institute, Canada
Jorge Di Paola, University of Colorado Anschutz Medical Campus, USA
Hudson H. Freeze, Sanford Burnham Prebys Medical Discovery Institute, USA
Pat Furlong, Parent Project Muscular Dystrophy, USA
William A. Gahl, NHGRI, National Institutes of Health, USA
Omar Khwaja, F. Hoffmann-LaRoche AG, Switzerland
Christoph Klein, Ludwig-Maximilians-University Munich, Germany
Rachel E. Meyers, Alnylam Pharmaceuticals Inc., USA
S. Celeste Morley, Washington University of St. Louis, USA
Richard Moscicki, U.S. Food and Drug Administration, USA
Josef M. Penninger, Institute of Molecular Biotechnology GmbH, Austria
Scott Snapper, Harvard Medical School, USA
Kevin Strauss, Clinic for Special Children, USA

*Keynote speaker


For the most up-to-date list of speakers and talks, click here:

VIEW PROGRAM


How to Register

keystonesymposia.org/17C2

Toll-Free: 800-253-0685

Outside USA & Canada:
+1 970-262-1230

Email:
info@keystonesymposia.org


Conference Deadlines

Scholarship Deadline:
Nov 2, 2016

Discounted Abstract Deadline: Nov 2, 2016

Abstract Deadline:
Dec 6, 2016

Discounted Registration Deadline: Jan 10, 2017

Additional Information

  • Deadlines are at midnight US Mountain Time.
  • Discounted abstract submission and discounted registration save 50 USD and 150 USD, respectively, on later fees. Short talk speakers will be chosen from abstracts received by the "Abstract Deadline" for the meeting.
  • Scholarships are for graduate students and postdoctoral fellows; the application requires submission of an abstract by the "Scholarship/Discounted Abstract Deadline" for the meeting.
  • Please note that the first advertised meeting date is the date of arrival and registration, and the last date that of the last organized sessions.

Visit our website for the program details and to plan your travel so as not to miss any sessions.

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