Christa Lese Martin, PhD, FACMG
The pace of technology used in identifying genomic variants (changes in DNA) has been increasing at a rapid rate, and the career of Christa Lese Martin has been swept along with the improving technology. Martin’s postdoctoral training at the University of Chicago began by using Giemsa banding, or G-banding, to look at abnormalities in chromosomes. G-banding is a method that gives each chromosome a unique banding pattern and allows differences from what is normal to be detected. Newer technologies using DNA-based probes, called chromosomal microarrays, that Martin helped develop, allowed researchers to look along the length of every chromosome for abnormalities, much like G-banding, but at a much higher resolution; a significant percentage of abnormalities could be detected that were not detectable by G-banding. As Martin says, “This rapid evolution was where my interest in technology development began, and we wanted to discover better ways to continue to identify these chromosome abnormalities from a research and clinical perspective.”
Chromosomal microarrays have allowed researchers such as Martin to identify many new genomic variants and syndromes. Consequently, Martin has worked towards the development of a clinical genomics database to share information on these genomic variants and help inform better clinical care. This project stems from her work (in conjunction with David Ledbetter, PhD, Geisinger’s Chief Scientific Officer) with the International Standards for Cytogenomic Arrays (ISCA) Consortium. They launched a project to create a database for clinical and research purposes that collects CNV data in a de-identified way, but that encourages uniformity in terms of interpreting results across different clinical laboratories. This database is particularly significant for researchers and clinicians working with patients who have rare CNVs; these single cases often don’t make it into the scientific literature, so this database allows clinicians and researchers to share data they might not otherwise have known about. NIH has developed a new database, ClinVar, based on this original CNV database, which now includes other types of DNA sequence variants. As Martin describes it, “Our ultimate goal is to improve data sharing among laboratories and clinicians to guide clinical interpretation of genomic variation–something that is becoming a part of medical practice every day.” In 2014, Martin, along with other researchers, launched GenomeConnect to enable patients to contribute their data to this database and engage them in the data sharing process.
Erin Riggs, MS, LGC
Erin Rooney Riggs is a certified genetic counselor. She received her Master's degree in Genetic Counseling at Northwestern University in 2007, and started her career as a clinical genetic counselor and research coordinator at Emory University. She worked at Geisinger from 2013-2017 as a coordinator for the Clinical Genome Resource (www.clinicalgenome.org). Erin continues her work with ClinGen and is an assistant professor at Geisinger's Autism and Developmental Medicine Institute.
Juliann Savatt, MS, LGC
Juliann Savatt received her Masters of Science in Genetic Counseling from UNC Greenboro. She is a board certified and licensed genetic counselor who currently sees patients in the Geisinger Autism and Developmental Medicine Institute in Lewisburg, Pennsylvania. In terms of her research interests, she is motivated to empower patients to be active partners in genomic discovery and is working towards that goal through being a part of the GenomeConnect team.
Danielle Azzariti, MS, LGC
Danielle Azzariti is a certified and licensed genetic counselor. She trained at Brandeis University and has been working as a genetic counselor in the Boston area since 2009. She started her career as a clinical genetic counselor and research coordinator for the Massachusetts General Hospital Neurogenetics Program. She has been working at the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine since 2013 as a coordinator for the Clinical Genome Resource (www.clinicalgenome.org) and Matchmaker Exchange.
Emily Palen, MS, LGC
Emily Palen graduated from Hamilton College with her Bachelor of Arts in Neuroscience and went on to Boston University’s School of Medicine for her Master’s in Genetic Counseling. Upon graduating in 2016, Emily moved back to her home state of Pennsylvania to work at Geisinger’s Autism and Developmental Medicine Institute as a genetic counselor and research coordinator. Emily is particularly interested in the study of developmental brain disorders, the promotion of health literacy and health empowerment, and the creation of opportunities to exchange data and information to improve patient care.
Taylor Bingaman, BS
Taylor Bingaman earned her Bachelor of Science in Biology from Susquehanna University in 2018. Taylor currently works as a genomic medicine assistant at Geisinger’s Autism & Developmental Medicine Institute in Lewisburg, PA. In addition to working as a member of the GenomeConnect team, she also assists genetic counselors in the clinical setting and coordinates expert panels and working groups for the Clinical Genome Resource.