Web Desc
From Rare to Care: Discovery, Modeling and Translation of Rare Diseases
Organizer(s): Josef M. Penninger and Kym Boycott
Date: November 11 - 14, 2018
Location: Vienna BioCenter, IMP Lecture Hall, Vienna, Austria
Developed in collaboration with Vienna BioCenter Research Institutes GMI, IMBA,
IMP and MFPL

Sponsored by Bioverativ Therapeutics, Moderna, Novo Nordisk A/S, Sanofi US, Sarepta Therapeutics and Valerion Therapeutics
For important information on the coronavirus, please click here
Summary of Meeting:
Work over the past 30 years has resulted in the identification of genes for ~50% of the estimated 7,000 rare genetic diseases; it is predicted that most of the remaining disease genes will be identified in the next 10 years. Approximately 500 medicinal products are currently on the market for rare diseases. The accelerating pace of rare disease gene identification means, in effect, an almost commensurate increase in molecularly defined, readily diagnosable, but nonetheless poorly understood and untreatable diseases. This conference will examine the current and future bottlenecks to gene discovery, disease modeling and therapeutic approaches and suggest strategies to enable progress in this regard. Ultimately, successful deployment of precision medicine for rare diseases will inform such approaches more broadly.
Scholarship Deadline: July 25 2018
Discounted Abstract Deadline: July 25 2018
Abstract Deadline: August 13 2018
Discounted Registration Deadline: September 18 2018
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:
Bioverativ TherapeuticsModernaNovo Nordisk A/SSanofi USSarepta TherapeuticsDeveloped in collaboration with VBC-Institutions and Vienna BioCenter
We gratefully acknowledge additional support from these exhibitors at this conference:
BioLegend, Inc.HITECH Projekt-Handels & Service GmbHLEXOGENThermo Fisher Scientific
We gratefully acknowledge additional support for this conference from:
Bio-Rad LaboratoriesTecniplast Deutschland GmbHValerion Therapeutics
We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:

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

National Center for Advancing Translational Sciences (NCATS)
Grant No. 1R13TR002524-01
Funding for this conference was made possible (in part) by 1R13TR002524-01 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, November 11 | 4:00PM - 8:00PM
Arrival and Registration
Room: IMP Foyer


Sunday, November 11 | 6:00PM - 8:00PM
Welcome Mixer
Room: IMP Foyer
No registration fees are used to fund alcohol served at this function.

Monday, November 12 | 9:00AM - 10:00AM
Welcome and Keynote Address
Room: IMP Lecture Hall

Speaker 1 of 3
* Josef M. Penninger, Institute of Molecular Biotechnology GmbH, Austria

Monday, November 12 | 9:00AM - 10:00AM
Welcome and Keynote Address
Room: IMP Lecture Hall

Speaker 2 of 3
* Kym Boycott, CHEO Research Institute, Canada

Monday, November 12 | 9:00AM - 10:00AM
Welcome and Keynote Address
Room: IMP Lecture Hall

Speaker 3 of 3
Michele De Luca, University of Modena and Reggio Emilia, Italy
Epidermal Stem Cells and Combined Cell and Gene Therapy of Epidermolysis Bullosa

Monday, November 12 | 10:00AM - 12:30PM
Approaches to Discover the Causes of all Rare Diseases
Room: IMP Lecture Hall

Speaker 1 of 7
* Elizabeth Bhoj, Children's Hospital of Philadelphia, USA

Monday, November 12 | 10:00AM - 12:30PM
Approaches to Discover the Causes of all Rare Diseases
Room: IMP Lecture Hall

Speaker 2 of 7
William A. Gahl, NHGRI, National Institutes of Health, USA
The NIH Undiagnosed Diseases Program, National Network and International Network

Monday, November 12 | 10:00AM - 12:30PM
Approaches to Discover the Causes of all Rare Diseases
Room: IMP Lecture Hall


Coffee Break

Monday, November 12 | 10:00AM - 12:30PM
Approaches to Discover the Causes of all Rare Diseases
Room: IMP Lecture Hall

Speaker 4 of 7
Bruno Reversade, Institute of Medical Biology, ASTAR, Singapore
Rare Begets Common: The Power of Genetic Orphan Diseases

Monday, November 12 | 10:00AM - 12:30PM
Approaches to Discover the Causes of all Rare Diseases
Room: IMP Lecture Hall

Speaker 5 of 7
Lisa Bastarache, Vanderbilt University Medical Center, USA
Interpreting Rare Variants with Phenotype Risk Scores

Monday, November 12 | 10:00AM - 12:30PM
Approaches to Discover the Causes of all Rare Diseases
Room: IMP Lecture Hall

Speaker 6 of 7
Sarah F. Barclay, Alberta Children's Hospital Research Institute, Canada
Short Talk: A Somatic Activating NRAS Variant Associated with Kaposiform Lymphangiomatosis

Monday, November 12 | 10:00AM - 12:30PM
Approaches to Discover the Causes of all Rare Diseases
Room: IMP Lecture Hall

Speaker 7 of 7
Swaroop Aradhya, Invitae Corporation, USA
Short Talk: Precision Medicine Implications from Genetic Testing in a Large Cohort of Childhood Epilepsy

Monday, November 12 | 12:30PM - 1:00PM
Poster Setup
Room: IMBA Atrium


Monday, November 12 | 12:30PM - 1:30PM
Lunch
Room: IMBA Atrium


Monday, November 12 | 1:00PM - 3:30PM
Poster Session 1
Room: IMBA Atrium


Monday, November 12 | 1:00PM - 6:00PM
Poster Viewing
Room: IMBA Atrium


Monday, November 12 | 3:30PM - 4:00PM
Coffee Available
Room: Foyer


Monday, November 12 | 4:00PM - 6:00PM
Organoids to Model Rare Disease
Room: IMP Lecture Hall

Speaker 1 of 5
* Jürgen A. Knoblich, Institute of Molecular Biotechnology, Austria

Monday, November 12 | 4:00PM - 6:00PM
Organoids to Model Rare Disease
Room: IMP Lecture Hall

Speaker 2 of 5
* Josef M. Penninger, Institute of Molecular Biotechnology GmbH, Austria
Growing Human Blood Vessels into Complex Human Organoid Disease Models

Monday, November 12 | 4:00PM - 6:00PM
Organoids to Model Rare Disease
Room: IMP Lecture Hall

Speaker 3 of 5
Silvia Cappello, Max Planck Institute of Psychiatry, Germany
Modeling Neuronal Migration Disorders with Human Cerebral Organoids

Monday, November 12 | 4:00PM - 6:00PM
Organoids to Model Rare Disease
Room: IMP Lecture Hall

Speaker 4 of 5
Joshua A. Bagley, IMBA – Institut für Molekulare Biotechnologie GmbH, Austria
Short Talk: Analyzing the Role of Interneuron Migration in Human Neuropsychiatric Disorders using Fused Brain Organoids

Monday, November 12 | 4:00PM - 6:00PM
Organoids to Model Rare Disease
Room: IMP Lecture Hall

Speaker 5 of 5
Ituro Inoue, National Institute of Genetics, Japan
Short Talk: New Challenges to Rare Genetic Diseases in Japan with Model Organisms; Launching J-RDMM

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 1 of 12
* Diego Ardigò, Chiesi Farmaceutici, Italy

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 2 of 12
* Petra Kaufmann, AveXis, Inc., USA
Gene Therapy for Rare Neurological Diseases

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 3 of 12
Vanja Nagy, Ludwig Boltzmann for Rare and Undiagnosed Diseases, Austria
Short Talk: Discovery of Novel and Conserved Nociceptive Pathways in Congenital Insensitivity to Pain

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 4 of 12
Neal Sondheimer, Hospital for Sick Children, Canada
Short Talk: Targeted Reduction of Pathogenic Mitochondrial Heteroplasmy through Binding of G-Quadruplex DNA

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 5 of 12
Evgueni Ivakine, Hospital for Sick Children, Canada
Short Talk: Transcriptional Upregulation of a Disease Modifier Gene as a Mutation-Independent Approach in Muscular Dystrophy

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 6 of 12
Nicolas Pilon, University of Quebec at Montreal, Canada
Short Talk: A GDNF-Based Molecular Therapy for Hirschsprung Disease

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall


Coffee Break

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 8 of 12
Malin Parmar, Lund University, Sweden
Stem Cells for Parkinson’s Disease, No Longer Lost in Translation

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 9 of 12
Jasmin Barman-Aksözen, Municipal Hospital Triemli, Switzerland
Getting a Medicine Approved for the Rare Light Intolerance Erythropoietic Protoporphyria

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 10 of 12
Dustin D. Armstrong, Valerion Therapeutics, LLC, USA
Short Talk: The Rare Disease Breakdown: A Cell-Penetrating and Degradative Antibody-Enzyme Fusion (AEF) Platform for the Treatment of Lafora Disease and Other Aggregate-Based Genetic Disorders

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 11 of 12
Katherine Cygnar, Regeneron Pharmaceuticals, USA
Short Talk: Next-Generation Antibody-Guided Enzyme Replacement Therapy for Lysosomal Storage Diseases

Tuesday, November 13 | 9:00AM - 12:45PM
Therapeutic Approaches to Rare Diseases
Room: IMP Lecture Hall

Speaker 12 of 12
Matthew S. Elitt, Case Western Reserve University, USA
Short Talk: Therapeutic Suppression of Proteolipid Protein Rescues Pelizaeus-Merzbacher Disease in Mice

Tuesday, November 13 | 12:45PM - 1:00PM
Poster Setup
Room: IMBA Atrium


Tuesday, November 13 | 12:45PM - 1:30PM
Lunch
Room: IMBA Atrium


Tuesday, November 13 | 1:00PM - 3:30PM
Poster Session 2
Room: IMBA Atrium


Tuesday, November 13 | 1:00PM - 6:00PM
Poster Viewing
Room: IMBA Atrium


Tuesday, November 13 | 3:30PM - 4:00PM
Coffee Available
Room: Foyer


Tuesday, November 13 | 4:00PM - 6:00PM
Translation of Discoveries to Treatments for Immunological D
isorders

Room: IMP Lecture Hall

Speaker 1 of 5
Kaan Boztug, Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria
From Monogenic Immune Dysregulation to Targeted Therapies

Tuesday, November 13 | 4:00PM - 6:00PM
Translation of Discoveries to Treatments for Immunological D
isorders

Room: IMP Lecture Hall

Speaker 2 of 5
Michael J. Lenardo, NIAID, National Institutes of Health, USA
Monogenic Disease Genes in T Cells and Autoimmunity

Tuesday, November 13 | 4:00PM - 6:00PM
Translation of Discoveries to Treatments for Immunological D
isorders

Room: IMP Lecture Hall

Speaker 3 of 5
* Christoph Klein, Ludwig-Maximilians-University, Germany
Treating Rare Immunological Disorders

Tuesday, November 13 | 4:00PM - 6:00PM
Translation of Discoveries to Treatments for Immunological D
isorders

Room: IMP Lecture Hall

Speaker 4 of 5
* Matthias Farlik, CeMM, Austria
Short Talk: Epigenome Analysis Defines Functional Heterogeneity in Langerhans Cell Histiocytosis

Tuesday, November 13 | 4:00PM - 6:00PM
Translation of Discoveries to Treatments for Immunological D
isorders

Room: IMP Lecture Hall

Speaker 5 of 5
Jae Seung Kang, Seoul National University College of Medicine, South Korea
Short Talk: Vitamin C Insufficiency Aggravates Dextran Sulfate Sodium (DSS)-Induced Colitis and Colitis-Associated Colon Cancer by Regulating IL-6 and IL-22 Production in Gulo(-/-) Mice

Tuesday, November 13 | 7:00PM - 8:30PM
Social Hour with Lite Bites
Room: City Hall


Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall

Speaker 1 of 9
* Anneliene Jonker, International Rare Diseases Research Consortium, France

Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall

Speaker 2 of 9
* Neal Sondheimer, Hospital for Sick Children, Canada

Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall

Speaker 3 of 9
Botond Roska, IOB, Switzerland
Cell Type Targeted Gene Therapy

Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall

Speaker 4 of 9
Peter K. Kim, Hospital for Sick Children, Canada
Short Talk: Repurposing a Malaria Drug for the Treatment of Zellweger Spectrum Disorder

Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall

Speaker 5 of 9
Jürgen A. Knoblich, Institute of Molecular Biotechnology, Austria
Cerebral Organoids: Modeling Human Brain Development and Tumorigenesis in Stem Cell-Derived 3D Culture

Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall


Coffee Break

Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall

Speaker 7 of 9
April Pyle, University of California, Los Angeles, USA
Development of Therapeutic Approaches for Muscle Disease using Human Pluripotent Stem Cells

Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall

Speaker 8 of 9
Resat Cinar, NIAAA, National Institutes of Health, USA
Short Talk: Killing Two Birds with One Stone: Polypharmacology for Effective Therapy of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Wednesday, November 14 | 9:00AM - 12:00PM
Discovery to Mechanism to Therapy for Rare Diseases
Room: IMP Lecture Hall

Speaker 9 of 9
John B. Lees-Shepard, University of Connecticut, USA
Short Talk: Palovarotene Reduces Heterotopic Ossification in Juvenile FOP Mice but Exhibits Pronounced Skeletal Toxicity

Wednesday, November 14 | 12:00PM - 4:00PM
On Own for Lunch


Wednesday, November 14 | 3:30PM - 4:00PM
Coffee Available
Room: Foyer


Wednesday, November 14 | 4:00PM - 5:30PM
The Future of Rare Diseases
Room: IMP Lecture Hall

Speaker 1 of 5
* Sarah Sheppard, Children's Hospital of Philadelphia, USA

Wednesday, November 14 | 4:00PM - 5:30PM
The Future of Rare Diseases
Room: IMP Lecture Hall

Speaker 2 of 5
* William A. Gahl, NHGRI, National Institutes of Health, USA

Wednesday, November 14 | 4:00PM - 5:30PM
The Future of Rare Diseases
Room: IMP Lecture Hall

Speaker 3 of 5
Diego Ardigò, Chiesi Farmaceutici, Italy
International Efforts to Increase Therapies for Rare Diseases

Wednesday, November 14 | 4:00PM - 5:30PM
The Future of Rare Diseases
Room: IMP Lecture Hall

Speaker 4 of 5
Christiane Druml, Medical University of Vienna and Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria
The Ethical Dimensions of Rare Disease Research and Gene Repair

Wednesday, November 14 | 4:00PM - 5:30PM
The Future of Rare Diseases
Room: IMP Lecture Hall

Speaker 5 of 5
Kym Boycott, CHEO Research Institute, Canada
International Coordination to Solve the Unsolved Rare Diseases

Wednesday, November 14 | 5:30PM - 6:15PM
Closing Keynote Address
Room: IMP Lecture Hall

Speaker 1 of 2
* Kym Boycott, CHEO Research Institute, Canada

Wednesday, November 14 | 5:30PM - 6:15PM
Closing Keynote Address
Room: IMP Lecture Hall

Speaker 2 of 2
Helene Cederroth, Wilhelm Foundation, Sweden
The Undiagnosed

Wednesday, November 14 | 6:15PM - 6:30PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Room: IMP Lecture Hall


Wednesday, November 14 | 6:30PM - 8:00PM
Social Hour with Lite Bites
Room: IMP Cafe
No registration fees are used to fund alcohol served at this function.

Thursday, November 15 | 10:24AM - 10:24AM
Departure


*Session Chair
†Invited, not yet responded.