Long-read sequencing to help bridge the diagnostic gap in rare Mendelian conditions

Description
The presentation will draw examples from the speaker's experience with the
GREGoR consortium and the Differences of Sex Development Translational
Research Network (DSD-TRN) to discuss the strengths and limitations of emerging
technology in identifying causative variants in rare Medelian conditions.

Level of Instruction
Advanced - Highly technical; extensive experience and knowledge of subject recommended

Learning Objectives

1. Demonstrate the advantages of long-ready sequencing in diagnosing rare Mendelian conditions.
2. Illustrate the utility of mutliomics to classify Variants of Uncertain clinical Significance.
3. Discover how to take advantage of the GREGoR Consortium for your undiagnosed cases.

Course summary

Available credit: 
  • 0.10 NSGC CEU
Course opens: 
07/10/2025
Course expires: 
07/10/2027
Cost:
$0.00

Presenter: Emmanuèle Délot, PhD

Scientific Coordinator at Disorders of Sex Differentiation Translational Research Network (DSD-TRN)

Emmanuèle Délot, PhD is an Academic Researcher at the Institute for Clinical and
Translational Science (ICTS), University of California, Irvine and a Visiting Research
Faculty, Yale New Haven Hospital, Department of ObGyn. She did her
undergraduate work at the Ecole Normale Supérieure and her PhD at the Université
Paris VI & Institut Pasteur, Paris, France. She is a member of the NHGRI-funded
network for Genomics Research to Elucidate the Genetics of Rare disease
(GREGoR Consortium), the Disorders/Differences of Sex Development Translational
Research Network (DSD-TRN), and the Undiagnosed Disease Network: UC Irvine
Genomic Data Board.

 

Moderator: Margo Gallegos, MS, LCGC

Medical Science Liaison at Ambry Genetics

Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science
Liaison. She previously worked as a pediatric genetic counselor at Children’s
National Medical Center in Washington, D.C, and an oncology genetic counselor at
Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include
public policy and licensure of genetic counselors both at the state and federal level.
Margo received her Bachelors of Science degree in Cell Biology and Genetics from
University of Maryland, College Park. She earned her Masters of Science degree in
Genetic Counseling from University of South Carolina School of Medicine and is
certified by the American Board of Genetic Counseling.

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EducateNext is committed to providing independent, objective, and evidence-based educational content. None of the individuals in control of this content—including our planners, reviewers, and approval faculty—have any financial relationships with ineligible companies to disclose. For all educational sessions, speaker-specific disclosures regarding any potential conflicts of interest are required and will always be shared directly with learners at the beginning of their respective presentations.

Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Programs.

Credit eligibility varies by activity; please see below for the specific credit types offered for this course.

Available Credit

  • 0.10 NSGC CEU

Price

Cost:
$0.00
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Please note: Attendees must track continuing education (CE) credits towards recertification. Credit cannot be claimed for both live and recorded versions of the same webinar; attendance is cross-checked annually. We apologize for the inconvenience and are working toward a single-platform solution to automatically manage dual registration and integrated transcript tracking.