Medical researchers Drs. Bridget Fernandez and Michael Woods are doing leading edge genetic research on pulmonary fibrosis, a condition that is not strongly genetic in most populations. But in Newfoundland it’s a different story, and that difference may lead to finding a more effective therapy.

Pulmonary fibrosis causes abnormal formations of fibre-like scar tissue in the lungs. As the disease progresses, lung tissues thicken and become stiff and breathing becomes difficult. To date there is no cure; the only treatment is a lung transplant.

The researchers are working with local respirologists, radiologists, pathologists and laboratory scientists to identify the gene for familial pulmonary fibrosis.

“We hope by discovering the gene’s role in lung physiology it will eventually lead to more effective therapy,” said Dr. Fernandez.

“Fortunately, in some cases, just because an individual has a mutated gene for pulmonary fibrosis does not necessarily mean they will suffer from pulmonary fibrosis,” said Dr. Woods. “Once the gene (or genes) is identified that cause pulmonary fibrosis in these families, physicians should be able to provide more informed clinical care for family members. Without the gracious co-operation of these families none of this work can be performed.”

The two researchers have garnered much support in this endeavour.

The Newfoundland and Labrador Lung Association, with the Peggy Lewis Memorial Walk Committee, has committed $110,000 over six years to support idiopathic pulmonary fibrosis (IPF) research at Memorial. The walk is a memorial to Peggy Lewis, who was just 43 years of age when she died from IPF in 1991. Her son, Chad Lewis, died at age 29 in 2002 as a result of this disease. Ms. Lewis’ oldest son, Kevin Jr., was diagnosed at age 25 but received a successful double lung transplant in 1998 and continues to do well today.

It’s not the first time that pulmonary fibrosis research by Drs. Fernandez and Woods has drawn public support. The late Craig Dobbin and his wife Elaine brought this rare and deadly disease to public attention; Mr. Dobbin suffered from IPF and survived with a single lung transplant performed at the University of Pennsylvania in the mid-1990s. He eventually passed away in 2006.

And then there’s Myles Burry of Wesleyville, who was 11 years old in January 2006 when he presented a $750 cheque to Dr. Fernandez. He raised the money selling Christmas cards that he designed, all in support of research on a disease that runs in his family.

It’s a familiar story to the two researchers. Work begun by Dr. Fernandez has already identified 11 Newfoundland families with a strongly genetic form of the disease. In these families, disease susceptibility is conferred by an autosomal dominant, incompletely penetrant gene.

As director of the Provincial Medical Genetics Program, Dr. Fernandez and nurse co-ordinator Barbara Noble are in close touch with families affected by familial pulmonary fibrosis. In the laboratory, Dr. Woods and his team are hard at work looking for the genes involved in this devastating disease.

Pulmonary fibrosis in Newfoundland is suggestive of what is known as “novel genetic etiology.”

Dr. Woods explained that known mutations in particular genes have been excluded in the Newfoundland families; the research team is now looking to determine if mutations in novel genes are causing the familial form of pulmonary fibrosis.