Regeneron Pharmaceuticals, Inc. Floorplan
This meeting took place in 2023
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Understanding Developmental Disorders in the Genomic Age (L2)
Organizer(s) Lee A. Niswander and Wendy K. Chung
June 6—8, 2023
Regeneron Pharmaceuticals, Inc. • Tarrytown, NY USA
Abstract Deadline: Apr 11, 2023
Scholarship Deadline: Apr 11, 2023
Discounted Registration Deadline: Apr 6, 2023
Supported by the Directors' Fund
Summary of Meeting:
Developmental disorders are the number one cause of infant mortality in the US and Europe and the impact on child health is lifelong. Each birth defect is rare but collectively structural birth defects are highly common. Recent advances in genetic sequencing have greatly improved our chances of linking gene variants to birth defects. However, assigning disease causality remains difficult, which is further complicated by a lack of understanding of how gene variants lead to disease mechanism. To address this challenge, gene discovery must be coupled with mechanism discovery. Birth defects research requires a collaborative understanding of patient phenotype, genetic variation and biological mechanisms. In order to fully utilize the genetic information, we need to understand the relevance of any genetic variant to the disease phenotype. This requires communication between clinicians (such as clinical geneticists, dysmorphologists, pediatricians) and research biologists (such as genomicists, epidemiologists, developmental, cellular and molecular biologists). We need animal models to study structural birth defect candidate genes, and given the large number of candidate genes identified, non-mammalian animal models as well as cell/iPSC modeling for rapid screening. The ultimate goal is to better understand the molecular and cellular pathogenesis in order to improve diagnosis and treatment for patients and to identify preventative strategies.
View Scholarships/Awards
Developmental disorders are the number one cause of infant mortality in the US and Europe and the impact on child health is lifelong. Each birth defect is rare but collectively structural birth defects are highly common. Recent advances in genetic sequencing have greatly improved our chances of linking gene variants to birth defects. However, assigning disease causality remains difficult, which is further complicated by a lack of understanding of how gene variants lead to disease mechanism. To address this challenge, gene discovery must be coupled with mechanism discovery. Birth defects research requires a collaborative understanding of patient phenotype, genetic variation and biological mechanisms. In order to fully utilize the genetic information, we need to understand the relevance of any genetic variant to the disease phenotype. This requires communication between clinicians (such as clinical geneticists, dysmorphologists, pediatricians) and research biologists (such as genomicists, epidemiologists, developmental, cellular and molecular biologists). We need animal models to study structural birth defect candidate genes, and given the large number of candidate genes identified, non-mammalian animal models as well as cell/iPSC modeling for rapid screening. The ultimate goal is to better understand the molecular and cellular pathogenesis in order to improve diagnosis and treatment for patients and to identify preventative strategies.
View Scholarships/Awards
No registration fees are used to fund entertainment or alcohol at this conference
The meeting will begin on Tuesday, June 6 with registration from 16:00 to 20:00 and a welcome mixer from 16:00 to 20:00. Conference events conclude on Thursday, June 8 with a closing plenary session from 15:30 to 19:00, followed by a social hour. We recommend return travel on Friday, June 9 in order to fully experience the meeting.
TUESDAY, JUNE 6
WEDNESDAY, JUNE 7
THURSDAY, JUNE 8
FRIDAY, JUNE 9
Conference Program Print | View meeting in 12 hr (am/pm) time
The meeting will begin on Tuesday, June 6 with registration from 16:00 to 20:00 and a welcome mixer from 16:00 to 20:00. Conference events conclude on Thursday, June 8 with a closing plenary session from 15:30 to 19:00, followed by a social hour. We recommend return travel on Friday, June 9 in order to fully experience the meeting.
TUESDAY, JUNE 6
16:00—20:00
Arrival and Registration (4pm Start)
Foyer
16:00—20:00
Welcome Mixer
No registration fees are used to fund alcohol served at this function.
Nucleus
08:30—09:00
Poster Setup
Nucleus
09:00—19:00
Poster Viewing
Nucleus
09:00—10:00
Welcoming Remarks and Keynote Address (9am Start)
Auditorium
*
Wendy K. Chung,
Columbia University, USA
Han G. Brunner,
Maastricht University and Nijmegen University Hospitals, Netherlands
Why We Have the Disorders We Have
Why We Have the Disorders We Have
10:00—12:30
Genetics of Structural Birth Defects (10am Start)
Auditorium
*
Aaron M. Zorn,
Cincinnati Children's Hospital Medical Center, USA
Wendy K. Chung,
Columbia University, USA
Complexities of Genetics of Pediatric Pulmonary Hypertension
Complexities of Genetics of Pediatric Pulmonary Hypertension
Coffee Break
Anna Alkelai,
Regeneron Pharmaceuticals, Inc, USA
Genetic Insights into Spina Bifida: A Study of 205 Families
Genetic Insights into Spina Bifida: A Study of 205 Families
Dagan Jenkins,
University College London, UK
The Need for Multimodal Models of Mutational Effects to Better Predict Clinical Outcomes: Lessons from the EMMAC Project
The Need for Multimodal Models of Mutational Effects to Better Predict Clinical Outcomes: Lessons from the EMMAC Project
Irene Zohn,
Children's National Hospital, USA
Gene-Environment Interactions and Congenital Heart Defects
Gene-Environment Interactions and Congenital Heart Defects
12:30—13:15
Lunch
Nucleus
12:45—14:00
Poster Session 1 (12:45pm Start)
Nucleus
14:30—16:30
Workshop (2:30pm Start)
Auditorium
*
Lee A. Niswander,
University of Colorado Boulder, USA
Shreeta Chakraborty,
National Institutes of Health, USA
A Mouse Model of Tracheoesophageal Fistula Reveals Tissue-Specific Ability of Enhancers to Bypass CTCF Insulation
A Mouse Model of Tracheoesophageal Fistula Reveals Tissue-Specific Ability of Enhancers to Bypass CTCF Insulation
Aseel Abbad,
University of Nottingham, UK
Analysis of CDK13-Related Disorder Using a Mouse Model
Analysis of CDK13-Related Disorder Using a Mouse Model
Claire Charpentier,
Children's National Hospital, USA
Role of the Cranial Mesenchyme in Neural Tube Defects
Role of the Cranial Mesenchyme in Neural Tube Defects
Licia Selleri,
University of California, San Francisco, USA
Identification of New Regulators of Face Outgrowth in Evolution and Congenital Disease
Identification of New Regulators of Face Outgrowth in Evolution and Congenital Disease
Anneke D. Kakebeen,
University of Colorado Boulder, USA
Investigating the Role of Faf2 in Neural Tube Closure
Investigating the Role of Faf2 in Neural Tube Closure
Clifford Liu,
Icahn School of Medicine at Mount Sinai, USA
Investigation of Cardiac Valve Disease Mechanisms in Noonan Syndrome with an iPSC Model
Investigation of Cardiac Valve Disease Mechanisms in Noonan Syndrome with an iPSC Model
Meet Patel,
University of Kentucky, USA
Elucidating the Role of a Cone Rod Dystrophy Candidate Gene, Cdhr1: A Photoreceptor Specific Cadherin in Zebrafish
Elucidating the Role of a Cone Rod Dystrophy Candidate Gene, Cdhr1: A Photoreceptor Specific Cadherin in Zebrafish
Yu Lan,
Cincinnati Children's Hospital Medical Center, USA
Tissue-specific ALX4 Function in Craniofacial Development
Tissue-specific ALX4 Function in Craniofacial Development
16:30—17:00
Coffee Available
Nucleus
17:00—19:00
Modeling Human Mutations (5pm Start)
Auditorium
*
Karen Liu,
King's College London, UK
Lee A. Niswander,
University of Colorado Boulder, USA
lnRncr3/miR124a/MeCP2 Interaction in Brain Development and Microcephaly
lnRncr3/miR124a/MeCP2 Interaction in Brain Development and Microcephaly
Aaron M. Zorn,
Cincinnati Children's Hospital Medical Center, USA
Modeling Trachea-Esophageal Defects in Animals and iPSC
Modeling Trachea-Esophageal Defects in Animals and iPSC
Samira Musah,
Duke University, USA
Organs on Chips
Organs on Chips
Carol Bult,
The Jackson Laboratory, USA
The Changing Landscape for Discovery and Validation of Genes for Congenital Diaphragmatic Hernia (CDH) using the Laboratory Mouse
The Changing Landscape for Discovery and Validation of Genes for Congenital Diaphragmatic Hernia (CDH) using the Laboratory Mouse
19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.
Nucleus
09:00—19:00
Poster Viewing
Nucleus
09:00—12:15
Genetic Discovery and Functional Genomics (9am Start)
Auditorium
*
Irene Zohn,
Children's National Hospital, USA
Elizabeth Leslie,
Emory University, USA
Genetics of Orofacial Clefts and Phenotypic Heterogeneity
Genetics of Orofacial Clefts and Phenotypic Heterogeneity
Len Pennacchio,
DOE Joint Genome Institute, USA
Non-Coding Variants and Functional Genomics
Non-Coding Variants and Functional Genomics
Coffee Break
Karen Liu,
King's College London, UK
Identification of Gene-function Interactions in Neural Crest Anomalies
Identification of Gene-function Interactions in Neural Crest Anomalies
Rulang Jiang,
Cincinnati Children's Hospital Medical Center, USA
Modeling in Human Pluripotent Stem Cells and Mutant Mice Reveal Chromatin Domain Fusion and Enhancer-Promoter Rewiring underlying SIX2-related Frontonasal Dysplasia
Modeling in Human Pluripotent Stem Cells and Mutant Mice Reveal Chromatin Domain Fusion and Enhancer-Promoter Rewiring underlying SIX2-related Frontonasal Dysplasia
Rohan Bhattacharya,
Duke University, USA
Short Talk: SMAD2 Variants in Human iPS Cells Dysregulate Differentiation into Kidney Glomerular Podocytes
Short Talk: SMAD2 Variants in Human iPS Cells Dysregulate Differentiation into Kidney Glomerular Podocytes
Casey Griffin,
New York University, USA
Short Talk: Function of Sf3b4 in Neural Crest and Craniofacial Development
Short Talk: Function of Sf3b4 in Neural Crest and Craniofacial Development
Liang Ma,
Washington University, USA
Short Talk: Streamlined Identification of Clinically and Functionally Relevant Genetic Regulators of Lower Tract Urogenital Development
Short Talk: Streamlined Identification of Clinically and Functionally Relevant Genetic Regulators of Lower Tract Urogenital Development
12:15—13:30
Lunch
Nucleus
13:30—15:00
Optional Poster Session 2 (1:30pm Start)
Nucleus
15:00—15:30
Coffee Available
Nucleus
15:30—17:30
From Genetic Insights to Clinical Therapies (3:30pm Start)
Auditorium
*
Dagan Jenkins,
University College London, UK
Nick Owens,
University of Exeter, UK
Primate-specific ZNF808 is Essential for Pancreatic Development in Humans through Regulation Transposable Elements during Endoderm Differentiation
Primate-specific ZNF808 is Essential for Pancreatic Development in Humans through Regulation Transposable Elements during Endoderm Differentiation
Edward Owusu-Ansah,
Columbia University Irving Medical Center, USA
Short Talk: Modeling Mitochondrial Complex I Disorders in Drosophila Melanogaster
Short Talk: Modeling Mitochondrial Complex I Disorders in Drosophila Melanogaster
Hao Chang,
University of Wisconsin-Madison, USA
Short Talk: Mouse Models for Studying G Protein Alpha Subunits in Vascular Anomalies
Short Talk: Mouse Models for Studying G Protein Alpha Subunits in Vascular Anomalies
Steven E. Brenner,
University of California, Berkeley, USA
Short Talk: The Role of Sequencing in Newborn Screening
Short Talk: The Role of Sequencing in Newborn Screening
David H. Rowitch,
University of Cambridge, UK
Advanced Diagnosis, Functional Genomics and New Treatments for Pelizaeus-Merzbacher Disease
Advanced Diagnosis, Functional Genomics and New Treatments for Pelizaeus-Merzbacher Disease
17:30—19:00
Panel Discussion: Modeling Structural Birth Defects (5:30pm Start)
Discussion to develop a consensus statement on the challenges of birth defects, the need to bridge gaps between clinicians, geneticists and biologists, and to improve patient advocacy and funding of interdisciplinary teams.
Auditorium
Lee A. Niswander,
University of Colorado Boulder, USA
Wendy K. Chung,
Columbia University, USA
Irene Zohn,
Children's National Hospital, USA
19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.
Nucleus
08:00—08:00
Departure
*Session Chair †Invited, not yet responded.
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