Diseases that predominantly affect children are too often unaddressed by the biopharmaceutical industry and government funding agencies.
"I have the utmost confidence that we can discover solutions to some of the most troubling health issues that affect children."
- Denny Sanford, Naming donor & Honorary Trustee
A world leader in providing solutions to childhood diseases
Our mission is to generate translational discoveries about such childhood diseases as diabetes, Duchenne muscular dystrophy, hypophosphatasia (bone disorders), and congenital disorders of glycosylation.
Program
Human Genetics Program
We are discovering the genetic roots of human disorders and translating that knowledge for patient well-being and potential treatments.
Latest news
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Sanford Burnham Prebys scientist joins historic effort to help children with rare disease
The consortium is funded by a $5 million, five-year NIH grant and will address decades of unresolved questions. -
Families find hope at our 10th Annual Rare Disease Day Symposium
The unofficial theme of Sanford Burnham Prebys’ 10th annual Rare Disease Day symposium can be summarized in one word:
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Parents gain answers about their child’s mysterious condition, thanks to SBP scientists
For the parents of a six-year-old Hispanic boy and a seven-year-old Qatari girl, answers remained elusive.
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Meeting the “man who saved my son’s life”
“I’ve got really cool stuff in my body,” 6-year-old Baraa Ismail proclaimed to
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SBP Rare Disease Day Symposium: We can’t do it alone
The 9th annual Rare Disease Day Symposium once again opened its doors to the global comm
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Professor Hudson Freeze helps dreams come true for rare disease patient
When Morgan Webb Liddle is riding a horse, it’s one of the only times she feels “free,” she says.
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Diagnosing a rare disease in children
Children born with the rare genetic disorder known as CDG often live for years before they receive a diagnosis.
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Genes and proteins go hand-in-hand
Thanks to huge improvements in DNA sequencing technology, scientists have identified almost all the genes present in
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Research may explain congenital deafness
If you’ve heard of hyaluronic acid (HA), it’s probably as an ingredient in cosmetic products meant to help keep skin
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First scientific meeting on Alagille syndrome sparks hope for a cure
“My child is 4 years old. Can we have a playdate?” said one parent of a child with Alagille syndrome to another.
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Scientists find molecular switch to regenerate insulin-producing cells
Future drugs could stimulate cells in the pancreas of diabetics to become insulin makers -
“No surrender” to CDG
From a farmhouse in rural Iowa, Crystal Vittetoe is fighting for her two babies afflicted with congenital disorders o
Publications
Quantitative atomic force microscopy provides new insight into matrix vesicle mineralization.
Plaut JS, Strzelecka-Kiliszek A, Bozycki L, Pikula S, Buchet R, Mebarek S, Chadli M, Bolean M, Simao AMS, Ciancaglini P, Magrini A, Rosato N, Magne D, Girard-Egrot A, Farquharson C, Esener SC, Millan JL, Bottini M
Arch Biochem Biophys 2019 May 30 ;667:14-21
Cardiac Hyaluronan Synthesis Is Critically Involved in the Cardiac Macrophage Response and Promotes Healing After Ischemia Reperfusion Injury.
Petz A, Grandoch M, Gorski DJ, Abrams M, Piroth M, Schneckmann R, Homann S, Müller J, Hartwig S, Lehr S, Yamaguchi Y, Wight TN, Gorressen S, Ding Z, Kötter S, Krüger M, Heinen A, Kelm M, Gödecke A, Flögel U, Fischer JW
Circ Res 2019 May 10 ;124(10):1433-1447
Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.
Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR
Pediatr Neurol 2019 May ;94:64-69
The eIF2α Kinase GCN2 Modulates Period and Rhythmicity of the Circadian Clock by Translational Control of Atf4.
Pathak SS, Liu D, Li T, de Zavalia N, Zhu L, Li J, Karthikeyan R, Alain T, Liu AC, Storch KF, Kaufman RJ, Jin VX, Amir S, Sonenberg N, Cao R
Neuron 2019 Aug 26 ;
Mutations in topoisomerase IIβ result in a B cell immunodeficiency.
Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hügle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM
Nat Commun 2019 Aug 13 ;10(1):3644
Publisher Correction: Non-canonical function of IRE1α determines mitochondria-associated endoplasmic reticulum composition to control calcium transfer and bioenergetics.
Carreras-Sureda A, Jaña F, Urra H, Durand S, Mortenson DE, Sagredo A, Bustos G, Hazari Y, Ramos-Fernández E, Sassano ML, Pihán P, van Vliet AR, González-Quiroz M, Torres AK, Tapia-Rojas C, Kerkhofs M, Vicente R, Kaufman RJ, Inestrosa NC, Gonzalez-Billault C, Wiseman RL, Agostinis P, Bultynck G, Court FA, Kroemer G, Cárdenas JC, Hetz C
Nat Cell Biol 2019 Jul ;21(7):913
Non-canonical function of IRE1α determines mitochondria-associated endoplasmic reticulum composition to control calcium transfer and bioenergetics.
Carreras-Sureda A, Jaña F, Urra H, Durand S, Mortenson DE, Sagredo A, Bustos G, Hazari Y, Ramos-Fernández E, Sassano ML, Pihán P, van Vliet AR, González-Quiroz M, Torres AK, Tapia-Rojas C, Kerkhofs M, Vicente R, Kaufman RJ, Inestrosa NC, Gonzalez-Billault C, Wiseman RL, Agostinis P, Bultynck G, Court FA, Kroemer G, Cárdenas JC, Hetz C
Nat Cell Biol 2019 Jun ;21(6):755-767
Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing.
Klaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R
Dis Model Mech 2019 Jun 5 ;12(6)
Publisher Correction: Dynamic changes to lipid mediators support transitions among macrophage subtypes during muscle regeneration.
Giannakis N, Sansbury BE, Patsalos A, Hays TT, Riley CO, Han X, Spite M, Nagy L
Nat Immunol 2019 Jun ;20(6):765-767