Fairmont Copley Plaza Floorplan

Registered Attendees


Registered attendees (and speakers, organizers, etc.) will have access to the following items from their Account page:

  • Abstracts from speakers and poster sessions, including the joint meeting abstracts, available 30 days prior to the meeting (You can edit your own abstract from My Account page as well)

    NOTE: Abstract authors/submitters may choose to not have their abstract available online and in the secure mobile app until a week before the meeting.

  • Full participant list, including joint meeting participants
  • Printable Invoices and Invitation Letters
  • Scholarship Information
  • Lodging Information

Login to My Account page

NOTES:
This meeting will be conducted in English.

All programs are subject to change. Check this site for updates.


Download Flyer

Twitter hashtag for this meeting: #KSraredis

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


IT’S NOT TOO LATE TO SUBMIT YOUR ABSTRACT. Abstracts received can no longer be considered for oral short talks; poster display opportunities remain open.
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.

DEADLINES:
Scholarship Deadline: Nov 2, 2016 [details]
Discounted Abstract Deadline: Nov 2, 2016 [details]
Abstract Deadline: Dec 6, 2016 [details]
Discounted Registration Deadline: Jan 10, 2017 [details]

Click here to view Cancellation Policy

Submit an Abstract Register Yourself Deadlines and Fees

Rates and Deadlines listed below are for the 2017-C2 "Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy" conference only.

*All deadlines end at 11:59 PM US Mountain Standard Time

Deadline Date Cost
Discounted Abstract Deadline
More details
Before and On November 2, 2016 100.00 USD*
- 50.00 USD discount
Abstract Deadline
More details
After November 2, 2016 until February 1, 2017 100.00 USD*
* 50.00 USD of Abstract fee deducted from your registration fee when you register for this meeting
Scholarship
More details
November 2, 2016 n/a
Discounted NON-STUDENT Registration
More details
Before and On January 10, 2017 745.00 USD
(includes 150.00 discount)
Regular NON-STUDENT Registration
More details
After January 10, 2017 895.00 USD
Discounted STUDENT Registration
More details
Before and On January 10, 2017 520.00 USD
(includes 150.00 discount)
Regular STUDENT Registration
More details
After January 10, 2017 670.00 USD

* Changes in payment type that result in a refund are subject to a processing fee.
* Currency exchange gains/losses are the responsibility of the registrant and the Keystone Symposia will accept no liability for money loss through bank charges, transfers or currency fluctuations.




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.
No registration fees are used to fund entertainment or alcohol at this conference

Conference Program    Print  |   View meeting in 12 hr (am/pm) time


The meeting will begin on Sunday, March 5 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Wednesday, March 8 with a closing plenary session from 17:00 to 19:00, followed by a social hour and entertainment. We recommend return travel on Thursday, March 9 in order to fully experience the meeting.

SUNDAY, MARCH 5

16:00—20:00
Arrival and Registration

Lobby
18:00—20:00
Welcome Mixer
No registration fees are used to fund alcohol served at this function.

Venetian Room

MONDAY, MARCH 6

07:30—08:30
Breakfast

Venetian Room
08:30—09:30
Welcome and Keynote Address
Registered attendees can view abstracts starting on 02/05/2017

Oval Room
* William A. Gahl, NHGRI, National Institutes of Health, USA

Kym Boycott, CHEO Research Institute, Canada
Canada's Path Forward for Rare Diseases: Discovery to Translation

09:30—12:15
CRISPR/cas9; iPS; Embryonic Stem Cells
Registered attendees can view abstracts starting on 02/05/2017

Oval Room
* William A. Gahl, NHGRI, National Institutes of Health, USA

Anne G. Bang, Sanford Burnham Prebys Medical Discovery Institute, USA
Phenotypic Screening of Human Induced Pluripotent Stem Cell (hiPSC) Derived Neuronal Networks On Multielectrode Arrays

Coffee Break

Josef M. Penninger, Institute of Molecular Biotechnology GmbH, Austria
Haploid Stem Cell Genetics

Matthew Porteus, Stanford University School of Medicine, USA
Talk Title to be Announced

Stephen Strom, Karolinska Institutet, Sweden
Short Talk: Gene Editing Correction of a Urea Cycle Defect in Stem Cell-Derived Hepatocytes

12:15—17:00
On Own for Lunch

12:15—13:00
Poster Setup

Venetian Room
13:00—22:00
Poster Viewing

Venetian Room
14:30—16:30
Workshop: Variant Analysis and Applications to Rare Diseases

Oval Room
* May Malicdan, National Institutes of Health, USA

Will G. Fairbrother, Brown University, USA
Disease-Causing Exonic Variations Frequently Affect Pre-mRNA Splicing

Stephen Meyn, Hospital for Sick Children, Canada
Predictive Secondary Genomic Variants in Children Undergoing Whole Genome Sequencing

Alireza Haghighi, Harvard Medical School, USA
An Integrated Clinical Model and Crowdsourcing Strategy for Genome Sequencing and Mendelian Disease Gene Discovery

Kristina Kannisto, Karolinska Institutet, Sweden
Liver-Humanized Mice as a Model for Human Metabolic Liver Disease

Sahar Nissim, Brigham and Women's Hospital, USA
Mutations in RABL3 Alter KRAS Prenylation and are Associated with Hereditary Pancreatic Cancer and RASopathy Syndromes

Aris N. Economides, Regeneron Pharmaceuticals, Inc., USA
Activin A is Required Factor during Initiation as well as the Early Stages of Heterotopic Ossification in FOP

Andy Golden, NIDDK, National Institutes of Health, USA
Modeling Three Different Craniofacial Diseases in the Sole C. Elegans Twist Gene

16:30—17:00
Coffee Available

Venetian Room
17:00—19:00
Mechanisms of Rare Disease
Registered attendees can view abstracts starting on 02/05/2017

Oval Room
* Esteban C. Dell'Angelica, University of California, Los Angeles, USA

S. Celeste Morley, Washington University of St. Louis, USA
Infectious Diseases as Primary Immune Defects: Lessons from Mice Lacking the Actin-Bundling Protein L-plastin

Scott Snapper, Harvard Medical School, USA
Immunological Mechanisms of Immune Tolerance in the Human Gut: Insights from Rare Diseases

Daniel Petersheim, Boston Children's Hospital, USA
Short Talk: The Expression Level of IkBa Mutants Determines Disease Severity in Autosomal Dominant Ectodermal Dysplasia and Immune Deficiency

Pat Furlong, Parent Project Muscular Dystrophy, USA
Talk Title to be Announced

19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Venetian Room
19:30—22:00
Poster Session 1

Venetian Room

TUESDAY, MARCH 7

07:30—08:30
Breakfast

Venetian Room
08:30—11:30
New Disease Discovery
Registered attendees can view abstracts starting on 02/05/2017

Oval Room
* Christoph Klein, Ludwig-Maximilians-University Munich, Germany

William A. Gahl, NHGRI, National Institutes of Health, USA
The NIH Undiagnosed Diseases Program and Network

Pankaj Agrawal, Boston Children's Hospital, USA
Short Talk: The Gene Discovery Core: Embracing New Strategies for Unrevealing Exomes in Rare Disease Research

Craig D. Blackstone, NINDS, National Institutes of Health, USA
Endoplasmic Reticulum Shaping Defects in the Hereditary Spastic Paraplegias

Coffee Break

Jorge Di Paola, University of Colorado Anschutz Medical Campus, USA
Disorders of Platelets and von Willebrand Factor

Hudson H. Freeze, Sanford Burnham Prebys Medical Discovery Institute, USA
Congenital Disorders of Glycosylation: Status and Perspectives

William Francis Mueller, European Molecular Biology Laboratory, Germany
Short Talk: Molecular Phenotypes Underlying the First Congenital Disorder of Deglycosylation: NGLY1 Deficiency

11:30—17:00
On Own for Lunch

11:30—13:00
Poster Setup

Venetian Room
13:00—22:00
Poster Viewing

Venetian Room
16:30—17:00
Coffee Available

Venetian Room
17:00—19:00
The Needs of Rare and Undiagnosed Disease Patients
Registered attendees can view abstracts starting on 02/05/2017

Oval Room
* Martin Andrews, GlaxoSmithKline, UK

Christoph Klein, Ludwig-Maximilians-University Munich, Germany
The International Care-for-Rare Alliance – Towards Individualized Therapies for Children with Rare Diseases

Takeya Adachi, Japan Agency for Medical Research and Development, Japan
Short Talk: Japan’s Initiative on Rare and Undiagnosed Diseases (IRUD): Towards Integrative Diagnosis Network for Universal Healthcare System

Annette Bakker†, Children's Tumor Foundation, USA
Neurofibromatosis

Richard Moscicki, U.S. Food and Drug Administration, USA
The FDA Perspective on Rare Disease Therapeutics

19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Venetian Room
19:30—22:00
Poster Session 2

Venetian Room

WEDNESDAY, MARCH 8

07:30—08:30
Breakfast

Venetian Room
08:30—11:30
Therapeutics for Rare Diseases
Registered attendees can view abstracts starting on 02/05/2017

Oval Room
* David Adams†, NHGRI, National Institutes of Health, USA

Kevin Strauss, Clinic for Special Children, USA
One Community’s Effort to Control Genetic Disease

Birgitte Volck, GlaxoSmithKline, UK
Genomics, Precision Medicine and Patient Relevant Drug Development in Rare Diseases

Coffee Break

Omar Khwaja, F. Hoffmann-LaRoche AG, Switzerland
Clinical Development Opportunities in Rare Diseases

Rachel E. Meyers, Alnylam Pharmaceuticals Inc., USA
Therapeutic Applications of RNAi

Christopher Schoenherr†, Regeneron Pharmaceuticals, USA
Short Talk: Antibody-Guided Enzyme Delivery for Lysosomal Storage Disease Treatment

Martin Pelletier, Centre de Recherche du CHU de Québec - Université Laval, Canada
Short Talk: Leukocytes' Secretome Analysis Guides Diagnosis and Therapeutic Intervention of Auto-inflammatory Patients

11:30—17:00
On Own for Lunch

16:30—17:00
Coffee Available

Venetian Room
17:00—06:45
Late-Breaking Discoveries and Technological Underpinnings of Rare and Undiagnosed Diseases Research
Registered attendees can view abstracts starting on 02/05/2017

Oval Room
* Alan H. Beggs, Boston Children's Hospital, Harvard Medical School, USA

Judit Sandrasekara Kumuthini, CPGR, South Africa
H3Africa - Infrastructure for Rare Disease Diagnosis and Treatments in Africa

Marshall Summar†, Children’s National Medical Center, USA
Explanted Metabolic Patient Livers

Stephen F. Kingsmore, Rady Children's Hospital-San Diego, USA
Whole Genome Analysis in 26 Hours

18:45—19:00
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Registered attendees can view abstracts starting on 02/05/2017

Oval Room
19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Venetian Room
20:00—23:00
Entertainment
Entertainment is not subsidized by conference registration fees nor any U.S. federal government grants. Funding for this expense is provided by other revenue sources.

Venetian Room

THURSDAY, MARCH 9

 
Departure


*Session Chair †Invited, not yet responded.



Keystone Symposia thanks our Sponsors for generously supporting this meeting:

Moderna Therapeutics Vertex Pharmaceuticals Incorporated

We gratefully acknowledge support for this conference from:


Directors' Fund


These generous unrestricted gifts allow our Directors to schedule meetings in a wide variety of important areas, many of which are in the early stages of research.

Click here to view all of the donors who support the Directors' Fund.



We gratefully acknowledge additional support for this conference from:


EveryLife Foundation for Rare Diseases


We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:



RaNA Therapeutics Inc.


Roche


We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:


Click here to view more of these organizations


Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:


Click here to view more of these organizations


If your organization is interested in joining these entities in support of Keystone Symposia, please contact: Sarah Lavicka, Assistant Director of Development, Email: sarahl@keystonesymposia.org,
Phone:+1 970-262-2690

Click here for more information on Industry Support and Recognition Opportunities.

If you are interested in becoming an advertising/marketing in-kind partner, please contact:
Yvonne Psaila, Director, Marketing and Communications, Email: yvonnep@keystonesymposia.org,
Phone:+1 970-262-2676