Dr. Paul Adams awarded $2.2-million for new study on Canada’s most common genetic disorderSchulich Medicine & Dentistry professor and Lawson Health Research Institute scientist Dr. Paul Adams is part of a research team which has received $2.2-million to investigate whether new iron genes contribute to the wide diversity of clinical expression in genetic hemochromatosis.
Genetic hemochromatosis, or iron overload, is Canada’s most common genetic disorder.
People with hemochromatosis absorb two to three times the normal amount of iron from the food they eat. Over the years, the excess iron builds up in the vital organs, joints and tissues, where it can cause a number of debilitating and potentially fatal conditions such as liver and heart disease, diabetes, impotence and arthritis. As early symptoms can be non-specific and attributed to many other causes, hemochromatosis can be difficult to diagnose until more extensive damage has occurred.
Dr. Adams, scientist at Lawson and chief of the division of Gastroenterology at London Health Sciences Centre, is a principal investigator on the grant entitled, “Genetic Modifiers of Iron Status in Hemochromatosis HFE C282Y Homozygotes.” Funded by the National Institutes of Health (NIH), the project will test patients from Canada, the United States and Australia. Hemochromatosis is the most common genetic disease in all three countries, found in 1 in 227 people with northern European ancestry.
The project will use exome sequencing to look for new genes and genetic mutations. “Exome sequencing is a method of analyzing genes to identify new genetic mutations that may cause more severe iron overload,” says Dr. Adams. “It is a method that produces a large amount of genetic information. The challenge is to interpret the information, like cracking a code.”
The study is an extension of the Hemochromatosis and Iron Overload Screening Study (HEIRS) which screened over 100,000 participants, including 20,000 from London, Ontario for iron overload. According to Dr. Adams, the DNA analysis from the HEIRS project is the cornerstone for this new project.