UNMC Researcher Receives $3.3 Million Grant to Study Rare Diseases That Affect Children

October 22, 2014

University of Nebraska Medical Center researcher, William Rizzo, M.D., has received a five-year, $3.3 million grant to study 10 rare diseases that affect children beginning in infancy or early childhood and throughout their life.

Dr. Rizzo is part of 22 consortia of researchers who will collaborate with 98 patient advocacy groups to advance clinical research and investigate new treatments for children with rare diseases. The collaborations are made possible through $29 million in grants from the National Institutes of Health to expand the Rare Diseases Clinical Research Network, which is led by NIH’s National Center for Advancing Translational Sciences (NCATS).

The diseases Dr. Rizzo treats and studies are probably unfamiliar to most people. They influence the pathway for cholesterol synthesis and metabolism and include diseases such as Sjogren-Larsson syndrome, Smith-Lemli-Opitz syndrome and Hyperimmunoglobulinemia D or Hyper-IgD syndrome. Some of the diseases cause intellectual disabilities, behavior changes and/or physical problems. One disease causes recurrent fevers and rash every four to six weeks for a lifetime.

He said some of the diseases each affect between 500 to 1,000 children nationwide and others, less.

Dr. Rizzo will conduct clinical research studies with patients with the rare diseases using a network in the U.S. and internationally.

“New therapies require knowing the natural progression of the disease. We will learn what happens over time to patients – medical problems and complications and what therapies will be required,” said Dr. Rizzo, a professor of pediatrics and chair of the UNMC division of inherited metabolic diseases. “In many diseases, there’s no specific therapy that works. A physician may see only one or two patients with this disease in the course of his or her career.”

According to the NIH, there is several thousand rare diseases, of which only a few hundred have any treatments available. Combined, rare diseases affect an estimated 25 million Americans.

To develop new treatments, Dr. Rizzo said families with loved ones affected are critically important to learning more about the diseases.

“Patient advocacy groups help increase awareness of the diseases, support each other, raise funds and sponsor family meetings. They partner with us to identify new patients and help us design some studies. We recruit patients from all over country,” Dr. Rizzo said.

Read more at the source here.

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