A New Target Against Muscular DystrophyPatients with muscular dystrophy suffer debilitating muscle loss that gets worse as they age. As the disease progresses, resident stem cells in a patient’s muscle tissue must work harder to replace diseased muscle. Over time, this special population of stem cells gets exhausted as they constantly proliferate (making more stem cells) and differentiate (specialize into new muscle cells).
Dr. Pier Lorenzo Puri, associate professor in the Sanford Children’s Health Research Center at Sanford-Burnham and colleagues are figuring out ways to keep the muscle stem cell pool fresh and ready to regenerate injured or diseased muscle. They recently uncovered the molecular messengers that translate inflammatory signals into the genetic changes that tell muscle stem cells to differentiate. These findings give the scientists a target to artificially dial the stem cell population up or down, a potential treatment that could boost muscle regeneration in muscular dystrophy patients.
Hope for a Rare DiseaseChildren with multiple hereditary exostoses (MHE), a rare inherited disease, suffer from multiple growths on their bones that cause pain, disfigurement and stunted growth. At the moment, the only treatment is surgery to remove the growths, which sometimes number in the hundreds.
“MHE is not usually deadly, but it is debilitating,” says Dr. Yu Yamaguchi, professor in the Sanford Children’s Health Research Center at Sanford-Burnham. “And if not removed by surgery, there is a chance these bone growths will become cancerous.”
MHE research has long been hampered by the lack of a good model that would answer questions about the underlying cause and allow scientists to test new treatments. Recently, Dr. Yamaguchi and collaborators unveiled a mouse model that does just that.
“This research is profoundly important,” says Sarah Ziegler, vice president of the MHE Research Foundation, which has provided seed funding for Dr. Yamaguchi’s research. “My son had more than 100 of these tumors and has gone through 15 surgeries. When your child has such a debilitating condition, and you know there’s nothing you can do, it’s petrifying. With this model, researchers can start looking for a cure.”
Treating Baby AmyInfantile hypophosphatasia (HPP) is a horrible disease and often fatal. A rare form of rickets, HPP makes bones dangerously fragile.
When Baby Amy was flown from her home in Ireland to Winnipeg, Canada, to be treated for HPP, she was transported in an insulated box to prevent her bones from breaking. However, after receiving an enzyme replacement therapy developed by José Luis Millán, Ph.D., and collaborators, Baby Amy was healthy enough to be held by her mother and make the trip home to Ireland. Dr. Millan is a professor in the Sanford Children’s Health Research Center at Sanford-Burnham.
The therapy, called ENB-0040, progressed from design to orphan drug status in just three years and was the result of a strong collaboration between Dr. Millán’s lab, ENOBIA Pharma (a small Canadian biotech) and Michael P. Whyte, M.D., of Shriner’s Hospital for Children in St. Louis.
About Sanford-Burnham Medical Research Institute Sanford-Burnham Medical Research Institute is dedicated to discovering the fundamental molecular causes of disease and devising the innovative therapies of tomorrow. Sanford-Burnham, with operations in California and Florida, is one of the fastest-growing research institutes in the country. The Institute ranks among the top independent research institutions nationally for NIH grant funding and among the top organizations worldwide for its research impact. From 1999 – 2009, Sanford-Burnham ranked #1 worldwide among all types of organizations in the fields of biology and biochemistry for the impact of its research publications, defined by citations per publication, according to the Institute for Scientific Information. According to government statistics, Sanford-Burnham ranks #2 nationally among all organizations in capital efficiency of generating patents, defined by the number of patents issued per grant dollars awarded.
Sanford-Burnham utilizes a unique, collaborative approach to medical research and has established major research programs in cancer, neurodegeneration, diabetes, and infectious, inflammatory, and childhood diseases. The Institute is especially known for its world-class capabilities in stem cell research and drug discovery technologies. Sanford-Burnham is a nonprofit public benefit corporation. For more information, please visit www.sanfordburnham.org.
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