Long-read sequencing to help bridge the diagnostic gap in rare Mendelian conditions with Emmanuèle C. Délot, PhD

• 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

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

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

Emmanuèle Délot, PhD | Presenter

Academic Researcher at the Institute for Clinical and Translational Science (ICTS) at University of California, Irvine

Emmanuèle C. 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 Ph.D 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. 

 

Margo Gallegos, MS, LCGC | Moderator

Account Executive, Rare Disease at Ambry Genetics

Margo Gallegos joined Ambry Genetics in 2020 as a Rare Disease Genomic Science Liaison and transitioned to an Account Executive-Rare Disease role for Maryland and Delaware in 2025. 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.