Elaine and Craig Dobbin
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
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