Photo by HSIMS Elaine and Craig Dobbin

By Sharon Gray
Craig Dobbin is only too familiar with the devastating health effects of pulmonary fibrosis. He’s only alive today at age 67 because he had a single lung transplant six years ago at the University of Pennsylvania Hospital.

Pulmonary fibrosis runs in Mr. Dobbin’s family, making it an unusual form of the disease and one that is of great research value. Coincidentally, Mr. Dobbin’s wife, Elaine, is also a member of another Newfoundland family in which pulmonary fibrosis is found. Although she doesn’t have the disease she’s lost relatives, including a sister and a brother, to its effects.

The Dobbins are, naturally, eager to see progress made in understanding – and finding a cure – for this disease. So in June they helped arrange a meeting of researchers from the University of Pennsylvania with a research team at Memorial that is studying pulmonary fibrosis.

Clinical geneticist Dr. Bridget Fernandez and her group have so far identified six Newfoundland families that have two or more members affected by pulmonary fibrosis. Along with Dr. Fernandez, the team’s members are research nurse-coordinator Barbara Noble, respirologist Dr. George Fox, radiologist Dr. Rick Bhatia and pathologist Dr. Dzintra Fernandez.

Dr. Bridget Fernandez said familial forms of pulmonary fibrosis are rare and thought to account for only a few per cent of all cases. The average age of diagnosis for the familial form is about 10 years younger than for sporadic cases, but otherwise indistinguishable in its effects.

“One of our study’s primary objectives is to assemble a cohort of individuals with the familial form of this disease, suitable for molecular genetic analysis. We also want to determine the prevalence of the familial and sporadic forms of pulmonary fibrosis in Newfoundland and to compare familial and non-familial patients.”

So far 122 individuals have been enrolled from six families, including 26 patients with familial pulmonary fibrosis. The families seem to be clustered on the Avalon Peninsula. “There is an unexpected high prevalence of familial pulmonary fibrosis in Newfoundland,” said Dr. Fernandez.

Symptoms of pulmonary fibrosis include shortness of breath and a persistent cough, and in Newfoundland more than 80 per cent of those affected with the familial form have a smoking history. Mr. Dobbin describes the disease as a “plague” on his family and his wife’s family, and admits that he waited too long to get a lung transplant. “I waited until I lost lung function and my wife had to organize the transplant. I took too much of a chance, but I was lucky to end up having the operation at the University of Pennsylvania.”

The University of Pennsylvania has the oldest medical school in the United States, and the first teaching hospital. Dr. John Hansen-Flaschen, chief of the Pulmonary, Allergy and Critical Care Division, said when they learned that both Mr. and Mrs. Dobbin had pulmonary fibrosis in their families it generated their research interest. “It is quite possible that the key to understanding this terrible disease lies in the studies of families that are affected by it.”

The visit to Memorial by Dr. Hansen-Flaschen and colleagues cell biologist Dr. Michael Beers and geneticist Dr. Reed Pyeritz, was the first step in what all parties hope is an ongoing collaboration. “There is not yet any test that can identify a person who might develop pulmonary fibrosis because the gene is not known,” said Dr. Beers.

“At the University of Pennsylvania we’ve been interested in both the research and treatment of lung disease for more than 50 years,” said Dr. Hansen-Flaschen. “We have a wonderful group of physicians and investigators assembled in same place, but like many other people we don’t know enough. To make our strongest contribution we reach out to other experts in around the world to work with and collaborate with on research projects that combine forces in ways that no individual centre could. This is what’s brought us to Newfoundland and we hope this is the start of an ongoing relationship that will bring us closer to understanding this disease.”