Grant to Fund Research on Ultra-Rare Hypophosphatasia “Soft Bone” Disease

Did you ever consider who funds medical research? Most people assume that it’s funded by the government. But, in fact, over half of the more than $100 billion (yes $100 BILLION) that are spent each year on medical research for everything from hemorrhoids to hypophosphatasia comes from the pharmaceutical industry.

Big Pharma underwrites roughly 60 percent of all biomedical research in the U.S., while Uncle Sam kicks in approximately one-third of the cost. That leaves private donors, such as non-profits, picking up the tab for about $5 billion.

Fortunately for people with an ultra-rare, metabolic bone disease called hypophosphatasia (HPP), help is on the way in the form of Soft Bones, Inc., a private organization dedicated to providing information, education, and support to those affected by the disease.

It just awarded its fourth annual Maher Family Grant to Dr. Kathryn Dahir, an adult endocrinologist and bone specialist, and her colleagues at Vanderbilt University Medical Center in Nashville, Tennessee, so that they can study adolescents and adults with HPP.

According to Soft Bones, HHP affects approximately one per 100,000 live births. Depending on the severity of the skeletal disease, symptoms can include deformity of the limbs and chest, pneumonia, and recurrent fractures.

While there is currently no cure for hypophosphatasia, treatment is directed towards preventing or correcting the symptoms or complications.

“We are excited to receive this grant, which will allow us to directly study physical impairments, abnormalities in movement and cognitive deficits in both adolescents and adults with HPP,” said Dr. Dahir. 

The Vanderbilt study is a collaborative effort between adult and pediatric endocrinology and the Pi Beta Phi Rehabilitation Institute. In addition, Dahir and colleagues are partnering with the Biomechanics & Assistive Technology Laboratory at Vanderbilt University to use state-of-the-art 3D motion analysis equipment to test for abnormalities in gait and muscle weakness in adolescents and adults with HPP.

More information about hypophosphatasia and existing research can be found at www.softbones.org.


Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email