To commemorate Hypophosphatasia Awareness Day (October 30), Soft Bones, Inc., an organization dedicated to providing information, education and support to those affected by hypophosphatasia (HPP), awarded its tenth annual Maher Family Grant.  In commemoration of its tenth anniversary, Soft Bones awarded two grants for the first time ever.  McGowan Institute for Regenerative Medicine affiliated faculty member Dobrawa Napierala, PhD, Associate Professor of Oral Biology at the Center for Craniofacial Regeneration, University of Pittsburgh School of Dental Medicine, is one of this year’s awardees and will study adolescents and adults with HPP.

Dr. Napierala will address the novel role of tissue-nonspecific alkaline phosphatase (TNSALP) in the mineralization process, which is the underlying cause of the majority of skeletal deformities and dental problems in HPP patients.

“My ultimate goal is to understand the molecular bases of human disorders affecting the formation of bone and teeth for the improvement of therapeutic approaches,” said Dr. Napierala. “This grant will allow me to explore the novel, previously unrecognized, function of alkaline phosphatase in bone and tooth cells, as I seek to help identify new treatment approaches that are applicable to various bone and tooth formation diseases.”

“Dr. Napierala’s research aims to provide a better understanding of molecular mechanisms underlying genetic mineralization disorders including rickets, osteomalacia, and, most importantly for soft bones, HPP,” noted Michael Whyte, MD, Medical-Scientific Director at the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children and Professor of Medicine, Pediatrics and Genetics at Washington University School of Medicine in St. Louis, MO. “Her research may provide a premise for evaluating TNSALP as potential treatment for these disorders.”

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.

Soft Bones, Inc. 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 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.

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