Inherited Conditions


Thursday, November 16, 2017


7:00am - 8:00am


The Utah Genome Project

Utah Genome Project: Genetic Discovery Powered by Utah's Large Families and Population Database
Deborah Neklason, PhD, University of Utah, Salt Lake City, UT, USA

Case Studies in Infectious Diseases and Genetics

Hypertetraploid Partial Molar Pregnancy Identified by Microarray and STR Analysis, with Subsequent Choriocarcinoma Diagnosis
Elizabeth Barrie, PhD, Nationwide Children's Hospital, Columbus, OH, USA

Research Whole Exome Sequencing Identifies a Novel SH2D1A Variant in a 51-Year-Old Patient with CNS Lymphocytic Vasculitis
Patrick Blackburn, PhD, Mayo Clinic, Rochester, MN, USA

Acute Liver Failure Due to Echovirus 9 Associated with Persistent B Cell Depletion from Rituximab
Alex Greninger, MD, PhD, University of Washington, Seattle, WA, USA

Pyrosequencing Solves the Case of the Conflicting Bacterial Isolates
Damon Olson, MD, Baylor College of Medicine, Houston, TX, USA

8:30am - 9:45am

AMP Award for Excellence in Molecular Diagnostics: Presentation and Lecture

The Epigenetic Basis of Common Human Disease
Andrew P. Feinberg, MD, MPH, Johns Hopkins University School of Medicine, Whiting School of Engineering, and Bloomberg School of Public Health, Baltimore, MD, USA

1:00pm - 2:30pm


Pharmacogenomics Implementation

Clinical Implementation of Pharmacogenomics: From Reactive Testing to Preemptive Testing
Ann M. Moyer, MD, PhD, Mayo Clinic, Rochester, MN, USA

Implementing and Assessing Outcomes with Genotype-Guided Therapy
Larisa H. Cavallari, PharmD, University of Florida, College of Pharmacy, Gainesville, FL, USA

Genetics of Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis: A Timely Review

Perspectives and Diagnostic Considerations in Spinal Muscular Atrophy
Thomas W. Prior, PhD, Ohio State University, Columbus, OH, USA

Genetics of ALS
Vivianna M. Van Deerlin, MD, PhD, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA


Friday, November 17, 2017


10:45am - 11:45am


Platform Presentations of Selected Abstracts

Abstracts are selected by the Program Committee

Platform Presentations of Selected Genetics Abstracts

G24 - Discovery of Unique Disease- and Gene-specific Peripheral Blood DNA Methylation Signatures Allows Molecular Diagnosis and VUS Classification in Hereditary Genetic Syndromes
Bekim Sadikovic, PhD, DABMG, FACMG, London Health Sciences Centre, Western University, Ontario, Canada

G44 - Runs of Homozygosity (ROH) Reveal that Segmental-UPD Occurs as a Result of Recombination Mediated Repair of Genomic Imbalance
Andrea L. Penton, PhD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

G30 - Improved Screening for Cancer Predisposition Mutations in Patients with Advanced Solid Tumors Enabled by Tumor-normal Sequencing
Diana Mandelker, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

G28 - Short Tandem Repeat Analysis Reveals a High Rate of Partial Hydatidiform Moles in Triploid Conceptions Identified by Prenatal Chromosome Microarray
Xuemei Wu, MD, PhD, Oregon Health & Science University, Portland, OR, USA

1:00pm - 2:30pm


High Impact Molecular Diagnostics for Cancer and Inherited Diseases

Solid Tumor Genotyping: Technical and Clinical Validation with a Focus on Fusions
A. John Iafrate, MD, PhD, Massachusetts General Hospital, Boston, MA, USA

Intersection of Germline and Somatic Cancer Variants and New Areas of Clinical Utility
Colin C. Pritchard, MD, PhD, University of Washington, Seattle, WA, USA

3:30pm - 5:00pm


Molecular Testing in the Practice of Cardiology

Phenotype to Genotype: How Traditional Techniques Pave the Way to Targeted Testing and Individualized Medicine
Joseph J. Maleszewski, MD, Mayo Clinic, Rochester, MN, USA

From Genes to Genomes: Evolution of Molecular Testing for Inherited Cardiomyopathies

Birgit Funke, PhD, Veritas Genetics, Danvers, MA, USA
Harvard Medical School, Boston, MA, USA


Saturday, November 18, 2017


8:15am - 9:45am


Mitochondrial Disease: Diagnosis, Treatment and Prevention

Overview of Mitochondrial Disease and Nuclear Genetic Causes
Marni J. Falk, MD, Children's Hospital of Philadelphia, Philadephia, PA
University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA

Mitochondrial DNA Disease: Etiology, Diagnosis, and Prevention
Sir Doug Turnbull, MBBS, MD, PhD, Newcastle University, Newcastle, UK

10:45am - 12:15pm


Crowd-sourcing the Expert Curation of Germline and Somatic Variants: CIViC, ClinGen and Clinvar

ClinGen and ClinVar: Building Resources to Support Gene and Variant Interpretation

Heidi L. Rehm, PhD, Harvard Medical School, Boston, MA, USA

CIViC: A Curation Portal and Knowledgebase for Cancer Variant Interpretation

Obi L. Griffith, PhD, Washington University School of Medicine, St. Louis, MO, USA

1:30pm - 3:00pm


Emerging Technology for Structural Variant Detection

Mate-Pair Sequencing in Cytogenetics
Nicole L. Hoppman, PhD, Mayo Clinic, Rochester, MN, USA

Digital Karyotyping and Complex Rearrangement Analysis with Sequencing at Single Molecule Resolution
Hanlee P. Ji, MD, Stanford University School of Medicine, Stanford, CA, USA

3:15pm - 4:45pm


Role of Genome Editing in Research and Therapy

Genome Editing with CRISPR-Cas Nucleases
J. Keith Joung, MD, PhD, Massachusetts General Hospital, Charlestown, MA, USA

Accelerating Prediction of Tumor Vulnerabilities Using Next-generation Cancer Models
Jesse S. Boehm, PhD, Broad Institute, Cambridge, MA, USA