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contribute to the rare disease diagnosis efforts of the Precision Medicine Institute, directed by Matt Might, Ph.D. They work with Craig Mackinnon on diagnostic components of -omics based tests. They are working in the Department of Pediatrics with Smita Bhatia, M.D., director of the Institute for Cancer Outcomes and Survivorship, and Matthew Alexander, Ph.D., on his work to increase understanding of the inherited disease Duchenne’s muscular dystrophy. Worthey works to understand the genetic basis of chronic fatigue syndrome, working with Jarred Younger, Ph.D., director of the Neuroinflammation, Pain and Fatigue Laboratory in the Department of Psychology, and she has done a considerable amount of work in cystic fibrosis. “I’m pretty disease agnostic,” Worthey said. “We really want to help people extract what they want and get their questions answered.” The through line in all these efforts is a focus on translation, Worthey said. “For us, it’s about helping patients alive today. We are very clinical, not just looking at research to gain generalizable knowledge.” At the time the Human Genome Project was completed in 2003, patients with rare or complex genetic diseases could only get a definitive diagnosis about 5% of the time, Worthey noted in a talk this past year at Stanford Medicine’s Big Data | Precision Health conference. That 5% figure hadn’t moved much by 2010. But today, it is at 40%. “My goal at UAB is to help obtain definitive diagnoses for all of our patients and then to go beyond the diagnosis to extract clinically useful information that helps those taking care of these patients to make molecularly informed decisions where possible,” Worthey said. “These are cool times and we’re excited to be here.”
6 UAB Pathology 2020 Issue 1
Fatima Publishes Book on Practical Approach to Renal Biopsy Huma Fatima, M.D., Associate Professor, Anatomic Pathology, and Director,
Renal Pathology Laboratory, recently published a book with CAP Press, Medical Kidney Diseases—Morphology-Based Novel Approach to Renal Biopsy. This 90-page book contains 66 cases, two of which are reprints. According to CAP Press, “It presents a simple and practical approach to renal biopsy by providing a pertinent differential diagnosis related to various patterns of injury involving renal parenchyma by light microscopy and reaching a correct diagnosis by assimilating immunofluorescence and electron microscopy findings.” In it, Fatima writes that the book is the outcome of a question nephrology fellows have asked several times since she began practicing in 2011. In a Q&A on the CAP Today website, Fatima states, “I have been teaching renal pathology to medical students, pathology residents, nephrology fellows, and foreign scholars since I joined UAB in 2011. On several occasions, nephrology fellows asked me, Is there any good resource we can use for our boards? I realized that most of the currently available material is quite extensive and may be overwhelming for those who are not renal pathologists. This led me to write the book—keeping in mind those who are outside the realm of renal pathology practice—to provide them pertinent information in a simple way that will be useful to them, not only for their board examination but also in practical life.”
New Faculty in Laboratory Medicine In September, Adam Wilberger, M.D., joined the department as Assistant Professor, Laboratory Medicine. Originally from Sewickley, Pennsylvania, a town outside of Pittsburgh, Wilberger grew up with parents who both worked in healthcare, which influenced his career choice. He majored in psychology at the University of Virginia and remains interested in the field. Wilberger attended medical school at Drexel University College of Medicine. He spent his third
and fourth years at Allegheny General Hospital clinical campus in Pittsburgh, where he was exposed to and developed an interest in pathology. His first two years of an AP/CP residency were spent at the Cleveland Clinic, where experience with hematopathology led to his decision to specialize in hemepath. Wilberger completed a residency at the University of Colorado, including a fifth year dedicated to research in the molecular lab under Dr. Dara Aisner as part of the physician scientist pathway. He comes to UAB having completed a 1-year hematopathology fellowship under world-renowned hematopathologist Dr. Steven Swerdlow.