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
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
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
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
MONDAY, NOVEMBER 12
TUESDAY, NOVEMBER 13
WEDNESDAY, NOVEMBER 14
THURSDAY, NOVEMBER 15
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
9:00—10:00 AM
Welcome and Keynote Address
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
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
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
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
Rare Begets Common: The Power of Genetic Orphan Diseases
Lisa Bastarache,
Vanderbilt University Medical Center, USA
Interpreting Rare Variants with Phenotype Risk Scores
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
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
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
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
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
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
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
Short Talk: New Challenges to Rare Genetic Diseases in Japan with Model Organisms; Launching J-RDMM
9:00 AM—12:45 PM
Therapeutic Approaches to Rare Diseases
IMP Lecture Hall
*
Diego Ardigò,
Chiesi Farmaceutici, Italy
*
Petra Kaufmann,
AveXis, Inc., USA
Gene Therapy for Rare Neurological Diseases
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
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
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
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
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
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
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
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
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
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
IMP Lecture Hall
Kaan Boztug,
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria
From Monogenic Immune Dysregulation to Targeted Therapies
From Monogenic Immune Dysregulation to Targeted Therapies
Michael J. Lenardo,
NIAID, National Institutes of Health, USA
Monogenic Disease Genes in T Cells and Autoimmunity
Monogenic Disease Genes in T Cells and Autoimmunity
*
Christoph Klein,
Ludwig-Maximilians-University, Germany
Treating Rare Immunological Disorders
Treating Rare Immunological Disorders
*
Matthias Farlik,
CeMM, Austria
Short Talk: Epigenome Analysis Defines Functional Heterogeneity in Langerhans Cell Histiocytosis
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
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
9:00 AM—12:00 PM
Discovery to Mechanism to Therapy for Rare Diseases
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
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
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
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
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
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
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
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
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
The Ethical Dimensions of Rare Disease Research and Gene Repair
Kym Boycott,
CHEO Research Institute, Canada
International Coordination to Solve the Unsolved Rare Diseases
International Coordination to Solve the Unsolved Rare Diseases
5:30—6:15 PM
Closing Keynote Address
IMP Lecture Hall
*
Kym Boycott,
CHEO Research Institute, Canada
Helene Cederroth,
Wilhelm Foundation, Sweden
The Undiagnosed
The Undiagnosed
6:15—6:30 PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
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
Departure
*Session Chair †Invited, not yet responded.
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