Soft Bones, an advocacy and support group for people with hypophosphatasia (HPP), has awarded a pair of research grants of $25,000 each in commemoration of its tenth anniversary. These grants are the tenth and eleventh awards the organization has offered in its history and represent the first time that it has provided two such awards in the same year.
HPP is an ultra-rare metabolic bone disease caused by low levels of alkaline phosphatase in the body, resulting in poor mineralization or a lack of mineralization completely. Patients with HPP suffer from fragile bones and loose or lost teeth, with severe cases having life-threatening consequences.
Dana Gaddy, PhD, professor of veterinary medicine, will use the tenth annual Maher Family Grant to study a sheep model for HPP. Dobrawa Napierala, PhD, associate professor of oral biology at the Center for Craniofacial Regeneration at the University of Pittsburgh School of Dental Medicine, will use her grant to study adolescents and adults with HPP.
In collaboration with co-investigators Dr. Sarah White and Dr. Larry Suva, Gaddy will research their novel findings of muscle structure and ultrastructural defects in sheep with HPP to determine the cause of muscle weakness commonly seen but poorly understood in HPP patients.
“I am inspired to effectively accomplish the proposed research aims with support from this Soft Bones grant,” said Gaddy. “Our goal is to use the sheep model to identify specific targets of altered muscle function that may be amenable to muscle-specific intervention in patients with HPP. These funds further empower us to resolve muscle weakness in all HPP patients, including my granddaughter.”
“A significant appeal of Dr. Gaddy’s proposal is that it moves closer toward the HPP patient,” said Michael P. Whyte, MD, chair of the Soft Bones Scientific Advisory Board and medical-scientific director at the Center for Metabolic Bone Disease and Molecular Research at Shriners Hospital for Children.
“Prior to this, the only animal model was in mice. The sheep model is more ideal for examining bone and dental changes that affect HPP patients and could ultimately lead to therapeutic innovations benefitting patient outcomes,” said Whyte, who also is professor of medicine, pediatrics, and genetics at Washington University School of Medicine in St. Louis.
Napierala’s Maher Family Grant will fund a research project that will address the novel role of tissue-nonspecific alkaline phosphatase (TNSALP) in the mineralization process, which is the underlying cause of most 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 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,” said Whyte. “Her research may provide a premise for evaluating TNSALP as a potential treatment for these disorders.”
The Soft Bones Scientific Advisory Board considers grant applications and oversees material development to ensure medical accuracy and provide strategic guidance for research grants. In addition to Whyte, it comprises internationally known, multi-disciplinary experts, Soft Bones says.
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