Seattle Children’s Research Institute
1920 Terry Ave.
Seattle, WA
Scientific Symposium
(Lunch Provided)
9 am – 5 pm
Poster Session & Reception
(Appetizers & Wine)
5 – 7 pm
Explore the full lineup below of posters highlighting innovative rare disease research and engage with the scientists driving this critical work forward.
SESSION
1
12:15pm
Catered lunch will be provided
Posters Presented During Lunch Break
The Environmental Determinants of Diabetes in the Young (TEDDY) Study
Claire Crouch & Michael Killian
Pacific Northwest Research Institute
Duplications at Xq28 Encompassing MECP2 are Frequently Complex and Often Mediated by Inverted Repeats
Jesse Bengtsson, PhD
Pacific Northwest Research Institute
Saturation Genome Editing in Support of Novel Mendelian Disease Discovery
Sabrina Best, MS
University of Washington, Brotman Baty Institute
Resolving the Chromatin Phenotype of Myotonic Dystrophy Type I with Targeted Fiber-Seq
Stephanie Bohaczuk, PhD
University of Washington
A Severe Clinical Presentation Associated with AUTS2: Further Delineation of the HX Repeat Domain-Related Phenotype
Esin Nur Erdogan, MD
Seattle Children’s Research Institute
Haplotype-Resolved Characterization of Repeat Expansions and Patterns of Methylation from 1000 Genomes ONT Consortium Data
Sophia Gibson
University of Washington
needLR: A Structural Variant Filtering and Prioritization Tool for Long-Read Sequencing Data
J. (Gus) Gustafson
Durability of Gene Therapy Efficacy in a Mouse Model of Dravet Syndrome
Samantha Hanson
Seattle Children’s Research Institute
A Dominant Negative Variant in MAST4 Causes a Developmental and Epileptic Encephalopathy
Scott Houghtaling
Seattle Children’s Research Institute
Ndufs4 Inactivation in Glutamatergic Neurons Reveals Swallow-Breathing Discoordination in a Mouse Model of Leigh Syndrome
Alyssa Huff, PhD
The Functional Impact of 1,570 Single Nucleotide Variant-Accessible Missense Variants in Human OTC
Russell Lo
Pacific Northwest Research Institute
vizCNV: An Integrated Platform for Concurrent Phased BAF and CNV Analysis with Trio Genome Sequencing Data
Ming Yin Lun
Pacific Northwest Research Institute
Insights on Improving Accessibility and Usability of Functional Data to Unlock its Potential for Variant Interpretation
Min Seon Park, MS, CGC
Leveraging Budding Yeast to Investigate Variants of Uncertain Significance for Porphyria Cutanea Tarda
Rachel Powell
University of Washington
Loss of Presenilin 2 Function Increases Susceptibility to Kainate-Induced Status Epilepticus
Larissa Robinson-Cooper
University of Washington
Knockout of Keratin 5 Dysregulates Keratinocyte Differentiation and Epidermal Morphogenesis in a Model of Epidermolysis Bullosa Simplex
Karina N. Schmidt, BS
University of Washington
Identifying Therapeutic Targets for PTEN-Related Neurodevelopmental Disorders
Ting An Chen
LINE-1 Transcription and L1-Derived Antigens in OMAS: A Model for Transposable Elements in Paraneoplastic Disease
Lei Yang, PhD
Pacific Northwest Research Institute
Novel Pathogenic Variants and their Functional Assessment of Robinow Syndrome
Rituparna Sinha Roy, PhD
Pacific Northwest Research Institute
Predicting the Functional Impact of Compound Heterozygous Genotypes from Variant Effect Maps
Gareth Cromie, PhD
Pacific Northwest Research Institute
SESSION
2
5:00pm
Appetizers and wine will be served
Posters Presented During Reception
Characterizing Swallow-Breathing Coordination in Male MECP2 Knockout Mice Compared to Wild-Type
Maryam Aslam
Seattle Children’s Research Institute
Hailey-Hailey Disease Model Identifies Actin Dysregulation and Oxidative Stress as Pathogenic Drivers Compromising Intercellular Adhesion
Jessica Ayers
University of Washington
Quantifying the Functional Impact of CTCF Genomic Variants with Saturation Genome Editing
Silvia Casadei, PhD
Primary Immunodeficiency Diseases: Copy Number Variation Analysis Applying Whole-Genome Sequencing for Unsolved Cases
Lidiia Gagarina
Pacific Northwest Research Institute
Complex DNA Structural Variant on Chromosome 2 Leading to Development Delay and Congenital Malformation in a Pediatric Patient
Kate Helle
Pacific Northwest Research Institute
Investigating the Developmental Pathogenesis of Dandy-Walker Malformation
Henry Tan, BSc
Seattle Children’s Research Institute
ASL Deficiency: Pervasive Genetic Interactions Between Active Site Alleles Restore Near Wildtype Function
Michelle Tang, PhD
Pacific Northwest Research Institute
Defining the Cellular Roles of Microtubule-Associated Serine/Threonine Kinase 4 in Neurodevelopmental Disorders
Riya Thomas, PhD
Seattle Children’s Research Institute
Empowering the Discovery, Development and Successful Commercialization of Cellular Therapeutics for Rare Diseases
Shanqiao Wei, PhD
Proteios Technology Inc.
A Maternal Germline Mutator Phenotype in a Family Affected by Heritable Colorectal Cancer
Candice Young, PhD
University of Washington
Modeling MCTT (MN1 C-Terminal Truncation) Syndrome in Mice
Theresa Zwingman, PhD & Sri Yellampally, BS
Assessing SLC13A5 Citrate Transporter Disorder Variants and Patient Priorities to Drive Patient-Centered Research
Tanya Brown, PhD
TESS Research Foundation
Identifying Pathogenic Variants That Cause Mendelian Conditions Using Long-Read Transcript Sequencing
Yong-Han Hank Cheng
University of Washington
Ethical Considerations for Early-Stage Clinical Trials in Gene Therapies
Rafael Escandón, DrPH
DGBI Research and Ethics Consulting
Comprehensive Variant Catalog and Genotype-Phenotype Correlations for Joubert Syndrome Associated Genes
Barbara Henning, PhD
University of Washington
Pharmacological Control of Peroxisome Biogenesis
Fred Mast, PhD
Seattle Children’s Research Institute
Genomic Analyses of 317 Consanguineous Kindreds from the Middle East and North Africa Facilitate the Discovery of Novel Recessive Neurodevelopmental Rare Disease Traits
Ahmed Saad
Baylor College of Medicine
Myeloproliferative Neoplasms: Persistent Challenges & New Opportunities in Rare Blood Cancers
David Shoultz, PhD, MBA
MPN Research Foundation
Deaminase-Assisted Single-Molecule Chromatin Fiber Sequencing (DAF-seq)
Elliot Swanson
University of Washington
Multiome Explorer: Illuminating Gene Expression & Chromatin Landscapes
Adriana Sedeno-Cortes, MSc
University of Washington
In Search of ‘Hidden’ Somatic Genetic Variations in Pulmonary Vein Stenosis
Natalie Au
Seattle Children’s Research Institute