Fairmont Copley Plaza Floorplan

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This meeting took place in 2017



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


Organizer(s) William A. Gahl and Christoph Klein
March 5—8, 2017
Fairmont Copley Plaza • Boston, Massachusetts USA
Discounted Abstract Deadline: Nov 2, 2016
Abstract Deadline: Dec 6, 2016
Scholarship Deadline: Nov 2, 2016
Discounted Registration Deadline: Jan 10, 2017

Sponsored by Moderna Therapeutics and Vertex Pharmaceuticals Incorporated

Summary of Meeting:
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.

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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
Meeting has ended...abstracts no longer viewable online.

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—11:45
CRISPR/cas9; iPS; Embryonic Stem Cells
Meeting has ended...abstracts no longer viewable online.

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 Multi-Electrode Arrays

Coffee Break

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

Matthew Porteus, Stanford University School of Medicine, USA
CRISPR/Cas9 Mediated Genome Editing of Human Hematopoietic Stem and Progenitor Cells to Develop Curative Therapies for Rare Diseases

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

11:45—17:00
On Own for Lunch

11:45—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 & Brigham Womens Hospital, USA
An Integrated Clinical Model and Crowdsourcing Strategy for Genome Sequencing and Mendelian Disease Gene Discovery

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
Meeting has ended...abstracts no longer viewable online.

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

Sharon 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

Patricia Furlong, Parent Project Muscular Dystrophy, USA
Carrying the Burden of a Rare Disease

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—11:45
New Disease Discovery
Meeting has ended...abstracts no longer viewable online.

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

11:45—17:00
On Own for Lunch

11:45—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
Meeting has ended...abstracts no longer viewable online.

Oval Room
* Birgitte Volck, 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
The Neurofibromatosis Business Model for Developing Rare Disease Therapeutics

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—11:45
Therapeutics for Rare Diseases
Meeting has ended...abstracts no longer viewable online.

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

Tracy Zimmermann, Alnylam Pharmaceuticals Inc., USA
Development of GalNAc-siRNA Conjugates for the Treatment of Rare Disease

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

11:45—17:00
On Own for Lunch

16:30—17:00
Coffee Available

Venetian Room
17:00—18:45
Late-Breaking Discoveries and Technological Underpinnings of Rare and Undiagnosed Diseases Research
Meeting has ended...abstracts no longer viewable online.

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

Judit Sandrasekara Kumuthini, Centre for Proteomic and Genomic Research, South Africa
The H3Africa and the H3ABioNet Infrastructure for Genomic Revolution in Africa

Marshall Summar, Children’s National Medical Center, USA
Using Novel Hepatocellular Techniques to Accelerate Therapeutic Discovery in Rare Metabolic Diseases

Stephen F. Kingsmore, Rady Children's Institute for Genomic Medicine, USA
Whole Genome Analysis in 26 Hours

18:45—19:00
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Meeting has ended...abstracts no longer viewable online.

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:


Wilhelm Foundation

EveryLife Foundation for Rare Diseases

We gratefully acknowledge the generous grant for this conference provided by:


National Institutes of Health
National Center for Advancing Translational Sciences (NCATS)

Grant No. 1R13TR001915-01

Funding for this conference was made possible (in part) by Grant Number TR 001915 - 01 from the National Institutes of Health. The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.


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