Jen's first introduction to genetic testing was when her daughter tested positive for a PTCH mutation. She sees firsthand how medical experts use that information to guide her long-term care plans. Years later, Jen was diagnosed with breast cancer. Due to her family history and age, she was encouraged to proceed with genetic testing and learned of a CHEK2 mutation. This information paved the way for specific treatment plans and future surveillance needs. Jen works in software design and actively seeks ways to learn and use her experiences to help advance medical research. Along with the GenomeConnect PAC, she has served as a Consumer Advocate for the Department of Defense Breast Cancer Research Program and a patient advocate on the Breast Cancer Advocacy Network at UW Hospital in Madison, Wisconsin.

GenomeConnect and ClinGen are very important to Rebecca's family. After 30 years of intractable seizures and other challenges, her only child, Kate, died of Sudden Unexplained Death in Epilepsy in 2019. In 2020, a reanalysis of genetic tests conducted in 2017 revealed Kate had CSNK2B Neurodevelopmental Disorder (also known as POBINDS). This ultra-rare condition, first described in 2017, has been documented in fewer than 200 people worldwide. Kate was one of the longest-living patients and the first known to have died of POBINDS-related complications. With connections made person to person via GenomeConnect, Rebecca is now part of a global online CSNK2B support community. Kate’s genetic variant and health data have been studied by researchers who found Rebecca's family through ClinGen/ClinVar. 

Rebecca has a PhD in botany from the University of Georgia. Before retirement, she conducted research in the genetics of rare plants and taught introductory biology at Butler University in Indianapolis, IN, USA. Now she uses her science background to write summaries of research articles for the CSNK2B community. 

Jennifer lives in New Mexico with her family. Her caregiving journey started six years ago when their son, Benjamin was born. Benjamin has ATR-X Syndrome, which is a monogenic, neurodevelopmental condition that affects many systems in the body. Jennifer and her husband Ben are co-founders of the ATRX Research Alliance (ARA), a non-profit organization that drives medical research forward in search of treatments while advocating for the patient community. Jennifer loves spending time with her family, and enjoys kickboxing, hiking, fishing, and singing. 

Emily Reinhardt currently serves as the Patient Registry Coordinator for the Association for Creatine Deficiencies (ACD), a rare disease patient advocacy organization dedicated to patients and families with cerebral creatine deficiency syndromes (CCDS). She is a graduate of Kansas State University, earning both her BS and MS in Psychology with a focus in Behavioral Neuroscience. Emily has 15 years of research experience, with particular emphasis in pre-clinical and translational neuroscience research. Through her love of science, she is passionate about using data to improve the lives of people in her community.