Exhibit Theater 1

Thursday, March 12


10:45 AM - 11:15 AM
Beyond DNA: How Adding RNA Changes the Game in Genomic Medicine
Speakers: Jamie Zdrodowski, MS, CGC Fulgent Genetics;
                  Katherine Roth, MD Post-doctoral fellow. City of Hope National
                  Medical Center, Center for Precision Medicine
Presented by: Fulgent Genetics

11:20 AM - 11:50 AM
The Long and Short of it: How Long and Short Read Genome Sequencing Uncovers Elusive Diagnoses
Speakers: Christine Stanley, PhD, FACMG, Variantyx Inc
Presented by: Variantyx, Inc.

11:55 AM - 12:25 PM
Recognize the Early Warning Signs of Fabry Disease: Why Early Symptoms Matter
Speaker: Victoria Lawson, MD, Dartmouth-Hitchcock Medical Center
Presented by: Sanofi

12:30 PM - 1:00 PM
Future-Ready Genomics: Real-World Implementation and Validation from Hereditary Cancer to WGS
Speakers: Sevana Yaghoubian, SOPHiA GENETICS
                  Francisco Pérez Blanco, PhD, Clínica Alemana de Santiago
Presented by: SOPHiA GENETICS

Exhibit Theater 2

Thursday, March 12


10:45 AM - 11:15 AM
From Complexity to Clarity: AmplideX Nanopore Carrier Plus Kit- for Carrier Screening Research and Beyond
Speaker: Malia Deshotel, PhD, ARUP Laboratories.
Presented by: Asuragen, a Bio-Techne brand

11:20 AM - 11:50 AM
The Clinical Management of Achondroplasia: What Geneticists Need to Know
Speaker: Cathleen L. Raggio, MD, Kathryn O. and Alan C. Greenberg                              Center for Skeletal Dysplasia, Hospital for Special Surgery
Presented by: BioMarin Pharmaceutical Inc.

11:55 AM - 12:25 PM
Bridging Real-World Evidence Gaps: The Role of Literature-Derived RWE in Rare Disease and Precision Oncology
Speaker:  Mark Kiel, MD, PhD, GENOMENON
Presented by: GENOMENON

12:30 PM - 1:00 PM
Introducing an Innovative Therapy for Use in Achondroplasia
Speaker: Janet Legare, MD, University of Wisconsin-Madison
Presented by: Ascendis Pharma

Friday, March 13


10:45 AM - 11:15 AM
Scaling the Genome: Elevating Rare Disease Diagnostics
Speakers: Akash Kumar, MD, PhD, MyOme;
                 Meredith Reichert, PhD, Natera
Presented by: MyOme Inc.

11:55 AM - 12:25 PM
Next-generation Genome: Expanding Access to Complex Genomics for Rare Disease
Speaker: David Silva, Illumina
                Fen Guo, PhD, FACMG, FCCMG, University of Pittsburgh/UPMC
Presented by: Illumina, Inc.

12:30 PM - 1:00 PM
From Complexity to Clarity: Streamlining CNV and SV Interpretation in Clinical Genomics
Speaker: Mitchell Nemcek, SeqOne Inc
Presented by: SeqOne Inc

Friday, March 13


10:45 AM - 11:15 AM
Smith-Lemli-Opitz Syndrome (SLOS)
An Overview of Its Causes, Presentation, Screening and Diagnosis, and Potential Benefits of Cholic Acid Therapy
Speaker:  Joe Ray, MD, UTMB Health Genetics
Presented by: Mirum Pharmaceuticals

11:20 AM - 11:50 AM
Laboratory-Led Initiatives to Improve Equity in Genomic Testing
Speakers: Altovise Ewing-Crawford, PhD, LCGC, Genentech
                  Carrie Horton, MS, CGC, Ambry Genetics;
                  Seth Berger, MD, PhD, Ambry Genetics
Presented by: Ambry Genetics

11:55 AM - 12:25 PM
Streamlined Long-Read Sequencing for Diagnostics Research With Pacbio
Speakers: Nina Gonzaludo, PhD, PacBio
                  Lucy Kaplun, PhD, Variantyx
Presented by: PacBio

12:30 PM - 1:00 PM
Putting Patients First: Innovative Multiomic and Multimodal Solutions for Rare Disease Diagnostics
Speakers: Christine Eng, MD, Baylor Genetics;
                  Chris Sands, Baylor Genetics
Presented by: Baylor Genetics