Web Desc
Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy
Organizer(s): William A. Gahl and Christoph Klein
Date: March 05 - 08, 2017
Location: Fairmont Copley Plaza, Boston, Massachusetts, USA
Sponsored by Moderna Therapeutics and Vertex Pharmaceuticals Incorporated
For important information on the coronavirus, please click here
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.
Scholarship Deadline: November 2 2016
Discounted Abstract Deadline: November 2 2016
Abstract Deadline: December 6 2016
Discounted Registration Deadline: January 10 2017
Abstract submission is now closed. Registered attendees may bring a poster onsite. Please contact our office at +1 800-253-0685; +1 970-262-1230 or email info@keystonesymposia.org if you are interested.


Keystone Symposia thanks our Sponsor(s) for generously supporting this meeting:
Moderna TherapeuticsVertex Pharmaceuticals Incorporated
We gratefully acknowledge additional support for this conference from:
EveryLife Foundation for Rare Diseases
Wilhelm Foundation
We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:

RaNA Therapeutics Inc.

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

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 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

Program

Sunday, March 05 | 4:00PM - 8:00PM
Arrival and Registration
Room: Lobby


Sunday, March 05 | 6:00PM - 8:00PM
Welcome Mixer
Room: Venetian Room
No registration fees are used to fund alcohol served at this function.

Monday, March 06 | 7:30AM - 8:30AM
Breakfast
Room: Venetian Room


Monday, March 06 | 8:30AM - 9:30AM
Welcome and Keynote Address
Room: Oval Room

Speaker 1 of 2
* William A. Gahl, NHGRI, National Institutes of Health, USA

Monday, March 06 | 8:30AM - 9:30AM
Welcome and Keynote Address
Room: Oval Room

Speaker 2 of 2
Kym Boycott, CHEO Research Institute, Canada
Canada's Path Forward for Rare Diseases: Discovery to Translation

Monday, March 06 | 9:30AM - 11:45AM
CRISPR/cas9; iPS; Embryonic Stem Cells
Room: Oval Room

Speaker 1 of 6
* William A. Gahl, NHGRI, National Institutes of Health, USA

Monday, March 06 | 9:30AM - 11:45AM
CRISPR/cas9; iPS; Embryonic Stem Cells
Room: Oval Room

Speaker 2 of 6
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

Monday, March 06 | 9:30AM - 11:45AM
CRISPR/cas9; iPS; Embryonic Stem Cells
Room: Oval Room


Coffee Break

Monday, March 06 | 9:30AM - 11:45AM
CRISPR/cas9; iPS; Embryonic Stem Cells
Room: Oval Room

Speaker 4 of 6
Josef M. Penninger, Institute of Molecular Biotechnology GmbH, Austria
Haploid Stem Cell Genetics

Monday, March 06 | 9:30AM - 11:45AM
CRISPR/cas9; iPS; Embryonic Stem Cells
Room: Oval Room

Speaker 5 of 6
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

Monday, March 06 | 9:30AM - 11:45AM
CRISPR/cas9; iPS; Embryonic Stem Cells
Room: Oval Room

Speaker 6 of 6
Stephen Strom, Karolinska Institutet, Sweden
Short Talk: Gene Editing Correction of a Urea Cycle Defect in Stem Cell-Derived Hepatocytes

Monday, March 06 | 11:45AM - 5:00PM
On Own for Lunch


Monday, March 06 | 11:45AM - 1:00PM
Poster Setup
Room: Venetian Room


Monday, March 06 | 1:00PM - 10:00PM
Poster Viewing
Room: Venetian Room


Monday, March 06 | 2:30PM - 4:30PM
Workshop: Variant Analysis and Applications to Rare Diseases
Room: Oval Room

Speaker 1 of 7
* May Malicdan, National Institutes of Health, USA

Monday, March 06 | 2:30PM - 4:30PM
Workshop: Variant Analysis and Applications to Rare Diseases
Room: Oval Room

Speaker 2 of 7
Will G. Fairbrother, Brown University, USA
Disease-Causing Exonic Variations Frequently Affect Pre-mRNA Splicing

Monday, March 06 | 2:30PM - 4:30PM
Workshop: Variant Analysis and Applications to Rare Diseases
Room: Oval Room

Speaker 3 of 7
Stephen Meyn, Hospital for Sick Children, Canada
Predictive Secondary Genomic Variants in Children Undergoing Whole Genome Sequencing

Monday, March 06 | 2:30PM - 4:30PM
Workshop: Variant Analysis and Applications to Rare Diseases
Room: Oval Room

Speaker 4 of 7
Alireza Haghighi, Harvard Medical School & Brigham Womens Hospital, USA
An Integrated Clinical Model and Crowdsourcing Strategy for Genome Sequencing and Mendelian Disease Gene Discovery

Monday, March 06 | 2:30PM - 4:30PM
Workshop: Variant Analysis and Applications to Rare Diseases
Room: Oval Room

Speaker 5 of 7
Sahar Nissim, Brigham and Women's Hospital, USA
Mutations in RABL3 Alter KRAS Prenylation and are Associated with Hereditary Pancreatic Cancer and RASopathy Syndromes

Monday, March 06 | 2:30PM - 4:30PM
Workshop: Variant Analysis and Applications to Rare Diseases
Room: Oval Room

Speaker 6 of 7
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

Monday, March 06 | 2:30PM - 4:30PM
Workshop: Variant Analysis and Applications to Rare Diseases
Room: Oval Room

Speaker 7 of 7
Andy Golden, NIDDK, National Institutes of Health, USA
Modeling Three Different Craniofacial Diseases in the Sole C. Elegans Twist Gene

Monday, March 06 | 4:30PM - 5:00PM
Coffee Available
Room: Venetian Room


Monday, March 06 | 5:00PM - 7:00PM
Mechanisms of Rare Disease
Room: Oval Room

Speaker 1 of 5
* Esteban C. Dell'Angelica, University of California, Los Angeles, USA

Monday, March 06 | 5:00PM - 7:00PM
Mechanisms of Rare Disease
Room: Oval Room

Speaker 2 of 5
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

Monday, March 06 | 5:00PM - 7:00PM
Mechanisms of Rare Disease
Room: Oval Room

Speaker 3 of 5
Scott Snapper, Children`s Hospital Boston, USA
Immunological Mechanisms of Immune Tolerance in the Human Gut: Insights from Rare Diseases

Monday, March 06 | 5:00PM - 7:00PM
Mechanisms of Rare Disease
Room: Oval Room

Speaker 4 of 5
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


Monday, March 06 | 5:00PM - 7:00PM
Mechanisms of Rare Disease
Room: Oval Room

Speaker 5 of 5
Patricia Furlong, Parent Project Muscular Dystrophy, USA
Carrying the Burden of a Rare Disease

Monday, March 06 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Venetian Room
No registration fees are used to fund alcohol served at this function.

Monday, March 06 | 7:30PM - 10:00PM
Poster Session 1
Room: Venetian Room


Tuesday, March 07 | 7:30AM - 8:30AM
Breakfast
Room: Venetian Room


Tuesday, March 07 | 8:30AM - 11:45AM
New Disease Discovery
Room: Oval Room

Speaker 1 of 8
* Christoph Klein, Ludwig-Maximilians-University, Germany

Tuesday, March 07 | 8:30AM - 11:45AM
New Disease Discovery
Room: Oval Room

Speaker 2 of 8
William A. Gahl, NHGRI, National Institutes of Health, USA
The NIH Undiagnosed Diseases Program and Network

Tuesday, March 07 | 8:30AM - 11:45AM
New Disease Discovery
Room: Oval Room

Speaker 3 of 8
Pankaj Agrawal, Boston Children's Hospital, USA
Short Talk: The Gene Discovery Core: Embracing New Strategies for Unrevealing Exomes in Rare Disease Research

Tuesday, March 07 | 8:30AM - 11:45AM
New Disease Discovery
Room: Oval Room

Speaker 4 of 8
Craig D. Blackstone, NINDS, National Institutes of Health, USA
Endoplasmic Reticulum Shaping Defects in the Hereditary Spastic Paraplegias

Tuesday, March 07 | 8:30AM - 11:45AM
New Disease Discovery
Room: Oval Room


Coffee Break

Tuesday, March 07 | 8:30AM - 11:45AM
New Disease Discovery
Room: Oval Room

Speaker 6 of 8
Jorge DiPaola, University of Colorado, USA
Disorders of Platelets and von Willebrand Factor

Tuesday, March 07 | 8:30AM - 11:45AM
New Disease Discovery
Room: Oval Room

Speaker 7 of 8
Hudson H. Freeze, Sanford Burnham Prebys Medical Discovery Institute, USA
Congenital Disorders of Glycosylation: Status and Perspectives

Tuesday, March 07 | 8:30AM - 11:45AM
New Disease Discovery
Room: Oval Room

Speaker 8 of 8
William Francis Mueller, European Molecular Biology Laboratory, Germany
Short Talk: Molecular Phenotypes Underlying the First Congenital Disorder of Deglycosylation: NGLY1 Deficiency

Tuesday, March 07 | 11:45AM - 5:00PM
On Own for Lunch


Tuesday, March 07 | 11:45AM - 1:00PM
Poster Setup
Room: Venetian Room


Tuesday, March 07 | 1:00PM - 10:00PM
Poster Viewing
Room: Venetian Room


Tuesday, March 07 | 4:30PM - 5:00PM
Coffee Available
Room: Venetian Room


Tuesday, March 07 | 5:00PM - 7:00PM
The Needs of Rare and Undiagnosed Disease Patients
Room: Oval Room

Speaker 1 of 5
* Birgitte Volck, GlaxoSmithKline, UK

Tuesday, March 07 | 5:00PM - 7:00PM
The Needs of Rare and Undiagnosed Disease Patients
Room: Oval Room

Speaker 2 of 5
Christoph Klein, Ludwig-Maximilians-University, Germany
The International Care-for-Rare Alliance – Towards Individualized Therapies for Children with Rare Diseases

Tuesday, March 07 | 5:00PM - 7:00PM
The Needs of Rare and Undiagnosed Disease Patients
Room: Oval Room

Speaker 3 of 5
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

Tuesday, March 07 | 5:00PM - 7:00PM
The Needs of Rare and Undiagnosed Disease Patients
Room: Oval Room

Speaker 4 of 5
Annette Bakker, Children's Tumor Foundation, USA
The Neurofibromatosis Business Model for Developing Rare Disease Therapeutics

Tuesday, March 07 | 5:00PM - 7:00PM
The Needs of Rare and Undiagnosed Disease Patients
Room: Oval Room

Speaker 5 of 5
Richard Moscicki, U.S. Food and Drug Administration, USA
The FDA Perspective on Rare Disease Therapeutics

Tuesday, March 07 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Venetian Room
No registration fees are used to fund alcohol served at this function.

Tuesday, March 07 | 7:30PM - 10:00PM
Poster Session 2
Room: Venetian Room


Wednesday, March 08 | 7:30AM - 8:30AM
Breakfast
Room: Venetian Room


Wednesday, March 08 | 8:30AM - 11:45AM
Therapeutics for Rare Diseases
Room: Oval Room

Speaker 1 of 8
* David Adams, NHGRI, National Institutes of Health, USA

Wednesday, March 08 | 8:30AM - 11:45AM
Therapeutics for Rare Diseases
Room: Oval Room

Speaker 2 of 8
Kevin A. Strauss, Clinic for Special Children, USA
One Community’s Effort to Control Genetic Disease

Wednesday, March 08 | 8:30AM - 11:45AM
Therapeutics for Rare Diseases
Room: Oval Room

Speaker 3 of 8
Birgitte Volck, GlaxoSmithKline, UK
Genomics, Precision Medicine and Patient-Relevant Drug Development in Rare Diseases

Wednesday, March 08 | 8:30AM - 11:45AM
Therapeutics for Rare Diseases
Room: Oval Room


Coffee Break

Wednesday, March 08 | 8:30AM - 11:45AM
Therapeutics for Rare Diseases
Room: Oval Room

Speaker 5 of 8
Omar Khwaja, F. Hoffmann-LaRoche AG, Switzerland
Clinical Development Opportunities in Rare Diseases

Wednesday, March 08 | 8:30AM - 11:45AM
Therapeutics for Rare Diseases
Room: Oval Room

Speaker 6 of 8
Tracy Zimmermann, Alnylam Pharmaceuticals Inc., USA
Development of GalNAc-siRNA Conjugates for the Treatment of Rare Disease

Wednesday, March 08 | 8:30AM - 11:45AM
Therapeutics for Rare Diseases
Room: Oval Room

Speaker 7 of 8
Christopher Schoenherr, Regeneron Pharmaceuticals, USA
Short Talk: Antibody-Guided Enzyme Delivery for Lysosomal Storage Disease Treatment

Wednesday, March 08 | 8:30AM - 11:45AM
Therapeutics for Rare Diseases
Room: Oval Room

Speaker 8 of 8
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

Wednesday, March 08 | 11:45AM - 5:00PM
On Own for Lunch


Wednesday, March 08 | 4:30PM - 5:00PM
Coffee Available
Room: Venetian Room


Wednesday, March 08 | 5:00PM - 6:45PM
Late-Breaking Discoveries and Technological Underpinnings of
Rare and Undiagnosed Diseases Research

Room: Oval Room

Speaker 1 of 4
* Alan H. Beggs, Boston Children's Hospital, Harvard Medical School, USA

Wednesday, March 08 | 5:00PM - 6:45PM
Late-Breaking Discoveries and Technological Underpinnings of
Rare and Undiagnosed Diseases Research

Room: Oval Room

Speaker 2 of 4
Judit Sandrasekara Kumuthini, Centre for Proteomic and Genomic Research, South Africa
The H3Africa and the H3ABioNet Infrastructure for Genomic Revolution in Africa

Wednesday, March 08 | 5:00PM - 6:45PM
Late-Breaking Discoveries and Technological Underpinnings of
Rare and Undiagnosed Diseases Research

Room: Oval Room

Speaker 3 of 4
Marshall Summar, Children’s National Medical Center, USA
Using Novel Hepatocellular Techniques to Accelerate Therapeutic Discovery in Rare Metabolic Diseases

Wednesday, March 08 | 5:00PM - 6:45PM
Late-Breaking Discoveries and Technological Underpinnings of
Rare and Undiagnosed Diseases Research

Room: Oval Room

Speaker 4 of 4
Stephen F. Kingsmore, Rady Children's Institute for Genomic Medicine, USA
Whole Genome Analysis in 26 Hours

Wednesday, March 08 | 6:45PM - 7:00PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Room: Oval Room


Wednesday, March 08 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Venetian Room
No registration fees are used to fund alcohol served at this function.

Wednesday, March 08 | 8:00PM - 11:00PM
Entertainment
Room: Venetian Room
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.

Wednesday, March 08 | 8:00PM - 11:00PM
Cash Bar
Room: Venetian Room


Thursday, March 09 | 10:24AM - 10:24AM
Departure


*Session Chair
†Invited, not yet responded.