Posted By: HGG Advances HGGA: What motivated you to start working on this project? NG: Although monogenic genetic disorders are individually rare, collectively they affect up to 1 in 20 people in the global population. Over 700 monogenic disorders—including many inherited metabolic disorders, which I study and treat clinically—now have targeted treatments. As more therapies... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? CSR: We’re the only clinical genetics lab for the only medical school in Oregon – OHSU is a major healthcare provider for the Oregon population. Our lab had the expertise to carry out the genetic testing, interpretation... Read More
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Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? JT: The unresolved mystery of personal history. Alright, that’s unnecessarily cryptic, let me try again. Upon completing my undergraduate studies, I found myself the unwilling protagonist of a medical odyssey, one highlighted by indiscriminate immune attack and... Read More
The month of April is a time of celebration in the human genetics and genomics community. Researchers work year-round to drive discovery and new applications across all facets of research, medicine, and society. On DNA Day (April 25), educators and the public at large dedicate the day to these discoveries and their impact on all... Read More