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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, UWC, 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 | 10:25AM - 10:25AM
Departure


*Session Chair.

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