Soft Bones, Inc., an organization dedicated to providing information, education and support to those affected by hypophosphatasia (HPP), is pleased to award its fourth annual Maher Family Grant to Dr. Kathryn Dahir, an adult endocrinologists and bone specialist at Vanderbilt University Medical Center in Nashville, Tennessee, and colleagues to study adolescents and adults with HPP.
"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. "Findings from this study will be used to develop strategies for patients, families and their doctors to better identify problems and make appropriate referrals to specialists when needed," she continued.
The study is a collaborative effort between adult and pediatric endocrinology and the Pi Beta Phi Rehabilitation Institute. In addition, Dr. 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.
The Scientific Advisory Board for Soft Bones carefully considers grant applications and after thoroughly reviewing Dr. Dahir's study, the board agreed that more individualized research is needed to better understand how diverse the problems of HPP in adults can be.
This is the fourth research grant Soft Bones has awarded since its founding in 2008. More information about hypophosphatasia and existing research can be found at www.softbones.org.
Hypophosphatasia is an inherited, ultra-rare, metabolic (chemical) bone disease of broad-ranging severity that causes life-threatening disease in 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.
ABOUT SOFT BONES, INC.
Soft Bones was founded in 2009 to provide information and to establish a forum to educate, empower, and connect patients living with hypophosphatasia, their families, and caregivers. The Foundation also promotes research of rare bone disease through awareness and fundraising efforts. Under the leadership of Deborah Nettune Fowler, Soft Bones has raised awareness around the world, including advocating for the disease to receive the policy recognition and research funding it deserves, by bringing attention to children affected by hypophosphatasia around the globe.