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EducateNext: Beyond the Blind Spots: Solving the Unsolvable with UCI PMGRC & the GREGoR Consortium

Thursday, November 12, 2026
11:00 am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

Continuing Education Credit: This live webinar is eligible for CE credit. A recorded version will be available for CE credit on education.ambrygen.com approximately 1 month following the live presentation.

Description: 

In this session, Seth Berger and Susan Toomey trace the evolution of rare disease genomics through the NHGRI-funded GREGoR Consortium and the Pediatric Mendelian Genomics Research Center (PMGRC) at UC Irvine. The presentation provides a concise overview of long-read whole genome sequencing (LR-WGS) and demonstrates how it overcomes traditional short-read limitations by uncovering previously hidden structural variants, complex repeats, and noncoding alterations. Through real-world patient case studies, attendees will explore how LR-WGS turns diagnostic cold cases into definitive molecular answers. Discover how collaborative research models and advanced genomic profiling are transforming diagnostics for unsolved rare diseases.

Level of Instruction: Intermediate

Learning objectives: 
  1. Understand the evolution and collaborative framework of the GREGoR Consortium and UCI PMGRC in transforming rare disease research and diagnostics beyond standard exome and short-read sequencing.
  2. Evaluate the technical and diagnostic capabilities of long-read whole genome sequencing (LR-WGS), specifically how it overcomes short-read blind spots to detect complex structural variants, repeat expansions, and noncoding alterations.
  3. Analyze real-world clinical case studies demonstrating how long-read sequencing turns unresolved rare disease cases into definitive molecular diagnoses for patients and families.

Ambry Genetics is an approved provider of continuing education by NSGC and ASCLS P.A.C.E ® Programs. 

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headshot – Seth Berger
Seth Berger
MD, PhD | Speaker
Seth I. Berger, MD PhD is a board certified pediatrician, medical geneticist, and medical biochemical geneticist currently working as Translational Genomics Director in Ambry’s Research and Development program. In this role, his team evaluates emerging genomics technologies and bioinformatics approaches to address the Rare Disease diagnostic odyssey.
68a4f416ce0cf858128444
Susan Toomey
MS, CGC | Speaker
Susan Toomey serves on the Clinical Strategy Team at Ambry Genetics, providing clinical program support for business development and pharmaceutical partnerships. Drawing on her expertise in genomic technology and the patient journey, she helps drive patient-first collaborations across the diagnostics and pharma sectors. Her work focuses on integrating the voices of patients, caregivers, and clinicians into the real-world application of genomics.
headshot – Katie Crawford
Katie Crawford
MS, CGC | Moderator
Katie is a Clinical Science Liaison at Ambry Genetics working with oncology, rare disease, and exome. She has previously worked clinically at Women & Infant’s Hospital of Rhode Island for over five years as an oncology genetic counselor. She is a graduate of the Arcadia University Genetic Counseling Program and has numerous scientific publications in the fields of oncology, neurology, epidemiology, and psychiatry.