Isabelle B. Cooperstein, BS is the 2025 recipient of the ACMG Foundation/Revvity Early Career Travel Award. The ACMG Foundation for Genetic and Genomic Medicine presented Ms. Cooperstein this award for her platform presentation at the 2025 ACMG Annual Clinical Genetics Meeting, “SimPheny: Automated Patient Matching for Genetic Diagnosis in Rare Disease Cohorts.”
Isabelle Cooperstein is a fifth-year PhD candidate in the Department of Human Genetics at the University of Utah in Salt Lake City. She earned her Bachelor of Science in Molecular Biology with a minor in Mathematics from the University of Wisconsin-Madison in 2017. Since joining the lab of Dr. Gabor Marth in 2021, Isabelle has focused her research on developing computational tools to enhance the diagnostic process for rare disease patients. Her work integrates phenotypic and genomic data to create accessible, user-friendly solutions that improve patient matching and gene prioritization, empowering clinical teams without the need for advanced programming expertise.
Ms. Cooperstein said, “I am honored to receive this award and excited to have the opportunity to share my research on such an important stage at the 2025 ACMG Annual Clinical Genetics Meeting. I am deeply grateful to the ACMG Foundation for their continued support of my career as a trainee, as well as to my mentors and the participants in the Undiagnosed Diseases Network, whose contributions have made this work possible.”
The ACMG Foundation/Revvity Early Career Travel Award helps promising young genetics professionals to cover the costs associated with attending the ACMG Annual Clinical Genetics Meeting. Since 2008, more than a dozen early-career thought leaders in genetic and genomic medicine were granted this honor. The ACMG Program Committee selects the final Travel Award recipient based on scientific merit from those abstracts selected for platform presentations.
“The ACMG Foundation is pleased to award Isabelle B. Cooperstein, BS the ACMG Foundation Early Career Travel Award. Leveraging data and developing computational tools to enhance the diagnostic process for patients with rare diseases are critical areas ripe for further development in genomics,” said Nancy J. Mendelsohn, MD, FACMG, president of the ACMG Foundation.
About the ACMG Foundation for Genetic and Genomic Medicine
The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics (ACMG) mission to “translate genes into health.” Through its work, the ACMG Foundation fosters charitable giving, promotes training opportunities to attract future medical geneticists and genetic counselors to the field, shares information about medical genetics and genomics, and sponsors important research. To learn more and support the ACMG Foundation mission to create “Better Health through Genetics” visit acmgfoundation.org.
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