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

Thursday, July 10, 2025

4:00am PDT

1 hour

C.E.U.: 1 Category 1 Contact Hour

P.A.C.E.: 1 Unit

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

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Margo Gallegos

Account Executive, Rare Disease at Ambry Genetics

Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. 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 […]

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.