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Collaboration helps a young Iranian girl
Dr. Hudson Freeze and collaborators helped identify the gene mutation responsible for a little girl’s debilitating skin condition and propose a possible solution.
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New hope for a rare disease
Dr. Yu Yamaguchi’s team developed a new model to study multiple hereditary exostoses that will help them better understand the cause of the disease and test new treatments.
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Rare disease symposium has uplifting moments
Kate Fischer and daughter Morgan, who is being treated for a rare disease called hypophosphatasia, attended Sanford-Burnham’s 2nd Annual Rare Disease Day Symposium.
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Studying genetic disease
The Genetic Disease Program focuses on the molecular and physiological basis of genetic disease, with a primary focus on monogenic disorders. The program's goal is to understand disease at a fundamental level, and then to use that knowledge to develop novel therapies. A hallmark of the program is collaboration with each other, with physicians, and with family support organizations. These diverse interactions provide fresh, unique insights into the potential causes of both primary symptoms and more subtle pathologies. The fruits of their basic science inform and link many scientific disciplines and medical specialties, enhancing their ability to develop new treatments and translate them into the clinic, ultimately leading to better care of patients.
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In the Genetic Disease Program, each laboratory is focused on understanding and treating rare childhood disorders. Results have already been translated to patient therapies and researchers are working to discover new ones.
How our research helps improve health
Researchers in this program are developing new therapies to conquer diseases that primarily affect children, such as type 1 diabetes, congenital disorders of glycosylation, hypophosphatasia, and multiple hereditary exostoses. For example, one laboratory helped develop ENB-0040, an enzyme replacement therapy currently in clinical trials to test its effectiveness in treating hypophosphatasia, a rare inherited bone disorder similar to rickets. ENB-0040 is currently the only treatment option for the disease.
Research - Children's Health - Genetic Disease: How Our Research
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Polyphosphates inhibit extracellular matrix mineralization in MC3T3-E1 osteoblast cultures.
Hoac B, Kiffer-Moreira T, Millán JL, McKee MD.
Bone. 2013 Apr;53(2):478-86. doi: 10.1016/j.bone.2013.01.020. Epub 2013 Jan 19.
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Understanding human glycosylation disorders: biochemistry leads the charge.
Freeze HH.
J Biol Chem. 2013 Mar 8;288(10):6936-45. doi: 10.1074/jbc.R112.429274. Epub 2013 Jan 17.
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Isozyme profile and tissue-origin of alkaline phosphatases in mouse serum.
Halling Linder C, Englund UH, Narisawa S, Millán JL, Magnusson P.
Bone. 2013 Apr;53(2):399-408. doi: 10.1016/j.bone.2012.12.048. Epub 2013 Jan 10.
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Intestinal alkaline phosphatase inhibits the proinflammatory nucleotide uridine diphosphate.
Moss AK, Hamarneh SR, Mohamed MM, Ramasamy S, Yammine H, Patel P, Kaliannan K, Alam SN, Muhammad N, Moaven O, Teshager A, Malo NS, Narisawa S, Millán JL, Warren HS, Hohmann E, Malo MS, Hodin RA.
Am J Physiol Gastrointest Liver Physiol. 2013 Mar;304(6):G597-604. doi: 10.1152/ajpgi.00455.2012. Epub 2013 Jan 10.
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Loss of β-catenin induces multifocal periosteal chondroma-like masses in mice.
Cantley L, Saunders C, Guttenberg M, Candela ME, Ohta Y, Yasuhara R, Kondo N, Sgariglia F, Asai S, Zhang X, Qin L, Hecht JT, Chen D, Yamamoto M, Toyosawa S, Dormans JP, Esko JD, Yamaguchi Y, Iwamoto M, Pacifici M, Enomoto-Iwamoto M.
Am J Pathol. 2013 Mar;182(3):917-27. doi: 10.1016/j.ajpath.2012.11.012. Epub 2012 Dec 25.
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Tooth root dentin mineralization defects in a mouse model of hypophosphatasia.
Foster BL, Nagatomo KJ, Tso HW, Tran AB, Nociti FH Jr, Narisawa S, Yadav MC, McKee MD, Millán JI, Somerman MJ.
J Bone Miner Res. 2013 Feb;28(2):271-82. doi: 10.1002/jbmr.1767.
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Research - Children's Health - Genetic Disease: Recent Publications |
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