Dissecting Genetic Disorders with Kelly Radtke, PhD

As we continue to discover the genetic causes for human disease, we are seeing that pathogenic alterations in one gene can have varied phenotypic expressions in different individuals. This commonly was attributed to “genotype-phenotype correlations” or simply to “variable expressivity”, but another explanation is that one gene can cause two distinct genetic disorders. How can one distinguish between simple “variable expressivity” and a gene that is causative of two distinct disorders? We will discuss the types of information that is used to differentiate between spectrum and allelic disorders and investigate how to use this distinction to improve and clarify variant classification.

Level of Instruction: Intermediate

Kelly Radtke, PhD | Presenter

Sr. Manager, Clinical Scientists, Ambry Genetics

Dr. Kelly Radtke has over 15 years of experience in biology research, including skills in diagnostic genetics, biochemistry, molecular biology, developmental biology, and pharmaceutical testing. At Ambry Genetics, Dr. Radtke manages a team of PhD scientists which is responsible for curating critical information on gene-disease relationships for clinical reporting, development and expansion of clinical test offerings. This team also is responsible for analysis of diagnostic exome sequencing, genetic variant classification, and reviewing current literature to aid in characterizing recently published gene-disease relationships. Additionally, Dr. Radtke worked as part of a team to develop clinical validity of gene-disease relationships criteria for clinical laboratory use and she currently leads a team of scientists that continue to curate an extensive gene disease relationship. She is a member of the GenCC steering committee, which is committed to publicly sharing clinical validity assertations of gene-disease relationships. While pursuing her doctorate, Dr. Radtke employed genetic and molecular biology techniques in order to study gene regulation during early zebrafish development.

Margo Gallegos, MS, CGC | Moderator

Genomic Science Liaison, 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 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.