Vienna BioCenter, IMP Lecture Hall Floorplan

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This meeting took place in 2018



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From Rare to Care: Discovery, Modeling and Translation of Rare Diseases (S4)


Organizer(s) Josef M. Penninger and Kym Boycott
November 11—14, 2018
Vienna BioCenter, IMP Lecture Hall • Vienna, Austria
Discounted Abstract Deadline: Jul 25, 2018
Abstract Deadline: Aug 13, 2018
Scholarship Deadline: Jul 25, 2018
Discounted Registration Deadline: Sep 18, 2018

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

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.

View Scholarships/Awards
No registration fees are used to fund entertainment or alcohol at this conference

Conference Program    Print  |   View meeting in 24 hr (international) time


The meeting will begin on Sunday, November 11 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Wednesday, November 14 with a closing plenary session and keynote address from 16:00 to 18:30, followed by a social hour. We recommend return travel on Thursday, November 15 in order to fully experience the meeting.

SUNDAY, NOVEMBER 11

4:00—8:00 PM
Arrival and Registration

IMP Foyer
6:00—8:00 PM
Welcome Mixer
No registration fees are used to fund alcohol served at this function.

IMP Foyer

MONDAY, NOVEMBER 12

9:00—10:00 AM
Welcome and Keynote Address
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
* Josef M. Penninger, Institute of Molecular Biotechnology GmbH, Austria

* Kym Boycott, CHEO Research Institute, Canada

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

10:00 AM—12:30 PM
Approaches to Discover the Causes of all Rare Diseases
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
* Elizabeth Bhoj, Children's Hospital of Philadelphia, USA

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

Coffee Break

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

Lisa Bastarache, Vanderbilt University Medical Center, USA
Interpreting Rare Variants with Phenotype Risk Scores

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

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

12:30—1:00 PM
Poster Setup

IMBA Atrium
12:30—1:30 PM
Lunch

IMBA Atrium
1:00—3:30 PM
Poster Session 1

IMBA Atrium
1:00—6:00 PM
Poster Viewing

IMBA Atrium
3:30—4:00 PM
Coffee Available

Foyer
4:00—6:00 PM
Organoids to Model Rare Disease
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
* Jürgen A. Knoblich, IMBA, Institute of Molecular Biotechnology, Austria

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

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

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

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

9:00 AM—12:45 PM
Therapeutic Approaches to Rare Diseases
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
* Diego Ardigò, Chiesi Farmaceutici, Italy

* Petra Kaufmann, AveXis, Inc., USA
Gene Therapy for Rare Neurological Diseases

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

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

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

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

Coffee Break

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

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

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

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

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

12:45—1:00 PM
Poster Setup

IMBA Atrium
12:45—1:30 PM
Lunch

IMBA Atrium
1:00—3:30 PM
Poster Session 2

IMBA Atrium
1:00—6:00 PM
Poster Viewing

IMBA Atrium
3:30—4:00 PM
Coffee Available

Foyer
4:00—6:00 PM
Translation of Discoveries to Treatments for Immunological Disorders
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
Kaan Boztug, Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria
From Monogenic Immune Dysregulation to Targeted Therapies

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

* Christoph Klein, Ludwig-Maximilians-University, Germany
Treating Rare Immunological Disorders

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

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

7:00—8:30 PM
Social Hour with Lite Bites

City Hall

WEDNESDAY, NOVEMBER 14

9:00 AM—12:00 PM
Discovery to Mechanism to Therapy for Rare Diseases
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
* Neal Sondheimer, Hospital for Sick Children, Canada

* Anneliene Jonker, International Rare Diseases Research Consortium, France

Botond Roska, IOB, Switzerland
Cell Type Targeted Gene Therapy

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

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

Coffee Break

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

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

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

12:00—4:00 PM
On Own for Lunch

3:30—4:00 PM
Coffee Available

Foyer
4:00—5:30 PM
The Future of Rare Diseases
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
* William A. Gahl, NHGRI, National Institutes of Health, USA

* Sarah Sheppard, Children's Hospital of Philadelphia, USA

Diego Ardigò, Chiesi Farmaceutici, Italy
International Efforts to Increase Therapies for Rare Diseases

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

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

5:30—6:15 PM
Closing Keynote Address
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
* Kym Boycott, CHEO Research Institute, Canada

Helene Cederroth, Wilhelm Foundation, Sweden
The Undiagnosed

6:15—6:30 PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Meeting has ended...abstracts no longer viewable online.

IMP Lecture Hall
6:30—8:00 PM
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

IMP Cafe

THURSDAY, NOVEMBER 15

 
Departure


*Session Chair †Invited, not yet responded.



Keystone Symposia thanks our Sponsors for generously supporting this meeting:

Bioverativ Therapeutics Moderna
Novo Nordisk A/S Sanofi US
Sarepta Therapeutics Valerion Therapeutics
Developed 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 GmbH
LEXOGEN Thermo Fisher Scientific
Please stop by to meet these exhibitors during the conference.


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


National Institutes of Health
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 gratefully acknowledge additional support for this conference from:

Bio-Rad Laboratories Tecniplast Deutschland GMBH

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



Chiesi Farmaceutici


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


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


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

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Phone:+1 970-262-2676