2015 Howley Award

Scientific Spotlight: Meet the 2015 Howley Award Winners

The Arthritis Foundation’s 2015 Lee C. Howley Sr. Prize for Arthritis Scientific Research recognized 42 scientists who played key roles in the discovery of a new autoimmune syndrome that combines the characteristics of severe lung disease and arthritis.

These doctors and researchers at the University of California at San Francisco (UCSF), Baylor College of Medicine and Texas Children’s Hospital made a major contribution to the medical community’s overall understanding of arthritis and related inflammatory illnesses, and have opened the door to new medication and treatment possibilities for patients suffering from the disease.

It all began four years ago, when Dr. Anthony Shum, a research physician from the UCSF, consulted with an emergency room patient suffering from a pulmonary hemorrhage. At the time, Dr. Shum was hoping to advance his research in autoimmune diseases of the lung, but in addition, meeting this patient put him on a path to discovering an important link between arthritis and pulmonary disease.

During his exam of the patient, Dr. Shum learned that the woman not only suffered from pulmonary disease, but also from arthritis. Several other family members also lived with symptoms of both diseases. Dr. Shum and his scientific team at UCSF worked with affected and non-affected members of the patient’s family, using their DNA with advanced sequencing techniques to reveal that they shared a genetic mutation of the COPA gene – a gene responsible for intracellular transport of newly made proteins. The family’s mutated COPA genes were crippling the protein, thus preventing it from performing vital cell functions.

Once the scientific team determined the genetic mutation, they reached out to others in the medical field, hoping to find more examples of patients with the same symptoms. Dr. Jordan Orange, director of the Texas Children’s Hospital Center for Human Immunobiology, and Dr. James R. Lupski, a sequencing expert from Baylor College of Medicine, both responded to the UCSF team with similar findings. Together, the UCSF-Baylor-Texas Children’s team identified five families in which 30 family members carried harmful COPA mutations. Only 21 of those carriers were affected by lung and joint problems.

The team’s finding suggests that, although the disease is inherited, the presence of COPA mutations does not solely determine that an individual will develop the syndrome. The fact that the team discovered five unrelated families and more than 20 affected individuals in just over two-and-a-half years of investigation suggests that the syndrome is not ultra-rare.

 

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