Serendipity unites physicians, researchers, families to fight rare genetic disease in kids

Ayden Isaacs, 15, (middle) walks along the Mississippi River in St. Louis County with his mother, Jennifer Isaacs, and his father, Michael Isaacs. Ayden Isaacs was diagnosed with DNMT3A Overgrowth Syndrome in 2015 at Washington University School of Medicine in St. Louis. Children and young adults with the rare genetic disease may have physical and intellectual disabilities and an increased risk for blood cancers, including acute myeloid leukemia (AML). Ayden’s clinical samples have helped researchers learn more about his condition and AML.
Michael Isaacs and Jennifer Isaacs walk with their son, Ayden, 15, at Cliff Cave Park in Oakville along the Mississippi River on February 27, 2022. Ayden has been diagnosed with Tatton Brown Rahman Syndrome, also called DNMT3A Overgrowth Syndrome, which is a rare disease studied by cancer geneticist timothy J. Ley, MD. MATT MILLER/WASHINGTON UNIVERSITY SCHOOL OF MEDICINE
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In 2008, a team of scientists at Washington University School of Medicine in St. Louis became the first to decode the DNA of a patient’s cancer cells and trace the disease to its genetic roots. The patient, a woman in her 50s, suffered from acute myeloid leukemia (AML), an aggressive and often deadly cancer of the blood and bone marrow. The findings garnered the research team worldwide acclaim and paved the way for more personalized approaches for the treatment of cancer based on the clusters of mutations in patients’ tumors.