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 and 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.
Webinar - 3/18/21
Fighting Rare Diseases
Finding Cures – Bringing Hope
Join us as we meet Hudson Freeze, Ph.D., José Luis Millán, Ph.D., and two of the patients they cured for a conversation on how their research is saving the lives of children facing rare disease.
Latest news
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Hospitals were full. One scientist stepped up.
Physician-scientist Evan Snyder spent two weeks in a gymnasium-turned ICU caring for people with severe COVID-19. -
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 community with a genui
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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
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
Expanding the Phenotype, Genotype and Biochemical Knowledge of ALG3-CDG.
Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA, University of Washington Center for Mendelian Genomics (UW-CMG)., Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C
J Inherit Metab Dis 2021 Feb 13 ;
Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?
Berry GT, Freeze HH, Morava E
Epilepsia 2021 Feb ;62(2):335-336
α-Synuclein Oligomers Induce Glutamate Release from Astrocytes and Excessive Extrasynaptic NMDAR Activity in Neurons, Thus Contributing to Synapse Loss.
Trudler D, Sanz-Blasco S, Eisele YS, Ghatak S, Bodhinathan K, Akhtar MW, Lynch WP, Piña-Crespo JC, Talantova M, Kelly JW, Lipton SA
J Neurosci 2021 Jan 22 ;
Small-molecule screen reveals synergy of cell cycle checkpoint kinase inhibitors with DNA-damaging chemotherapies in medulloblastoma.
Endersby R, Whitehouse J, Pribnow A, Kuchibhotla M, Hii H, Carline B, Gande S, Stripay J, Ancliffe M, Howlett M, Schoep T, George C, Andradas C, Dyer P, Schluck M, Patterson B, Tacheva-Gigorova SK, Cooper MN, Robinson G, Stewart C, Pfister SM, Kool M, Milde T, Gajjar A, Johns T, Wechsler-Reya RJ, Roussel MF, Gottardo NG
Sci Transl Med 2021 Jan 20 ;13(577)
Maternal immune activation in mice disrupts proteostasis in the fetal brain.
Kalish BT, Kim E, Finander B, Duffy EE, Kim H, Gilman CK, Yim YS, Tong L, Kaufman RJ, Griffith EC, Choi GB, Greenberg ME, Huh JR
Nat Neurosci 2021 Feb ;24(2):204-213