Academics and Research

Researcher targets ‘orphan disease’

Jeff Stonebraker is an engineer, a decision analyst and a medical sleuth.

The assistant professor in DU’s Daniels College of Business has spent the better part of the last decade researching hemophilia A, a rare blood disorder.

Working with two medical doctors in the U.K. and Canada and a PhD from the Centers for Disease Control and Prevention, Stonebraker has been exploring on a country-by-country basis: whether there are relationships between the number of people alive with hemophilia A; the number of drugs used in the treatment of hemophilia A; and various health-socioeconomic indicators.

The resulting research is important to policy makers, drug companies and physicians in planning national health care resources for the treatment of the disease, Stonebraker says.

Hemophilia A

Hemophilia A is an inherited bleeding disorder in which the blood doesn’t clot properly due to the absence or deficiency of factor VIII (FVIII), a protein in human blood critical for blood coagulation. FVIII replacement drug therapy can stop bleeding, but it isn’t a cure.

According to Stonebraker, hemophilia A is considered an orphan disease — with fewer than 200,000 sufferers in the U.S. — and is often underlooked or not serviced by drug companies.

Data collection

Stonebraker and his colleagues gathered data on hemophilia A prevalence, FVIII use, and 1,129 health-socioeconomic indicators for 114 countries from 1996–2006 from the World Federation of Hemophilia, the World Bank, the World Health Organization, the United Nations and the Market Research Bureau.

Stonebraker had a graduate student collect some of the data, and students from his fall 2007 statistics class analyzed some data sets.

Prevalence tied to economy

Existing medical literature suggests that the hemophilia A incidence should be the same for all populations and racial groups, but Stonebraker’s research found that the prevalence in lower income countries is significantly less than higher income countries.

“The more economic capacity a country has, the higher number of people are alive with the disease,” says Stonebraker. “But in countries like China and India, where the disease isn’t identified or patients are dying from the disease because of a lack of treatment, the numbers are less than expected.”

He says that countries with marginal economies typically don’t provide resources for treating rare, chronic, and expensive conditions since they focus their limited resources on public health issues that affect larger portions of the population.

Real-world applications

Stonebraker says this research will be important for national health care agencies to determine realistic budget priorities in planning for the increased use of FVIII drugs in the treatment of hemophilia. This information also is important for drug manufacturers in planning for adequate production of FVIII drugs.

“In a developed country, you have a different way of treating the disease as you do in developing world,” says Stonebraker. “We are trying to model FVIII latent therapeutic demand within the global hemophilia community so as to improve treatment throughout the world.

The resulting paper, “A study of variations in the reported hemophilia A prevalence around the world,” will be submitted to Haemophilia, the official journal of the World Federation of Hemophilia. The research team also plans to submit subsequent research to the New England Journal of Medicine or the Journal of the American Medical Association.

Stonebraker’s work is an example of how academics can use their knowledge and skills to make a real difference in the world, according to Anthony Hayter, chair of the Department of Statistics and Operations Technology at the Daniels College of Business, where Stonebraker works.

“Jeff’s research uses statistical and probabilistic techniques that we teach in our core curriculum for our business students, and this is a wonderful demonstration of how faculty research not only raises our visibility in the international academic community, but can have a real benefit to the classroom environment.”

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