There and Back Again: A Case’s Journey through the Undiagnosed Diseases Program with Ellen Macnamara, ScM, CGC

• The Undiagnosed Diseases Network will be presented explaining the goals and research efforts of the Network. A summary of the Network and how cases are referred will be reviewed. Using case examples, the benefits of the UDN, the pros and cons of different sequencing strategies, and the agnostic research analysis process will be discussed. Historic NIH-UDP cases will be used to examine when reanalysis versus new data generation is needed for genomic analysis.
  
  Level of Instruction: Basic

  

  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.

Ellen Macnamara, ScM, CGC | Presenter

Genetic Counselor for the Undiagnosed Diseases Program at NIH

Ellen is the Genetic Counselor for the Undiagnosed Diseases Program at NIH. She provides clinical genetic counseling for participants and runs the bioinformatic agnostic analysis and candidate variant prioritization processes. She is particularly interested in the psychological and emotional sequalae from living with or parenting a child with a rare or undiagnosed disease and in better understanding the grief that these families experience throughout their diagnostic odysseys.

Bradley Power, MS, CGC | Moderator

Genomic Science Liaison at Ambry Genetics

Brad Power is a genetic counselor based in Irvine, CA, but he grew up on the east coast, just outside of Baltimore, MD. Brad first stepped into genetics studying bacterial genomics as part of his biology degree at St. Mary’s College of Maryland. From there he transitioned to human genetics and worked at the National Institutes of Health researching oculocutaneous albinism. Following his time in lab, he moved to Houston, TX to pursue his Masters in Genetic Counseling at the University of Texas Health Science Center. He returned to work as a genetic counselor at the NIH’s Undiagnosed Diseases Program and later worked in oncology at MD Anderson Cancer Center. Following his time in clinic, he transitioned to Ambry Genetics where he works as a genomic science liaison supporting cardiology, neurology and rare disease testing in Southern California and the Pacific Northwest.