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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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Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: a unified model of the mechanisms of initiation of skeletal calcification.
Yadav MC, Simão AM, Narisawa S, Huesa C, McKee MD, Farquharson C, Millán JL.
J Bone Miner Res. 2011 Feb;26(2):286-97. doi: 10.1002/jbmr.195. Epub 2010 Aug 3.
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Pancreatic beta-cell neogenesis by direct conversion from mature alpha-cells.
Chung CH, Hao E, Piran R, Keinan E, Levine F.
Stem Cells. 2010 Sep;28(9):1630-8.
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SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG.
Cell. 2010 Jul 23;142(2):203-17. Epub 2010 Jul 15.
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Dose response of bone-targeted enzyme replacement for murine hypophosphatasia.
Yadav MC, Lemire I, Leonard P, Boileau G, Blond L, Beliveau M, Cory E, Sah RL, Whyte MP, Crine P, Millán JL.
Bone. 2011 Aug;49(2):250-6. Epub 2011 Mar 31.
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A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.
Matsumoto K, Irie F, Mackem S, Yamaguchi Y.
Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10932-7. Epub 2010 Jun 1.
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Regenerative capacity in newts is not altered by repeated regeneration and ageing.
Eguchi G, Eguchi Y, Nakamura K, Yadav MC, Millán JL, Tsonis PA.
Nat Commun. 2011 Jul 12;2:384. doi: 10.1038/ncomms1389.
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Research - Children's Health - Genetic Disease: Recent Publications |
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