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.
Recording
March 18, 2021
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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Where science meets patients: Sanford Children’s Research Center hosts inaugural symposium
The event celebrated 16 years of progress at the Center and connected scientists with the people most impacted by their work. -
Rare Disease Day gathers scientists, doctors and families
After a break during the pandemic, Rare Disease Day is back and better than ever. -
From child neurology to stem cells: An interview with Evan Snyder
In honor of his recent inclusion in a notable neurology textbook, we interviewed Sanford Burnham Prebys Professor Evan Snyder about how his work in child neurology and social work informed his foundational discoveries in the early history of stem cell research. -
This enzyme is one of the hardest working proteins in the body
Researchers led by Yu Yamaguchi, M.D., Ph.D., have shown that in the absence of a certain protein, levels of an important carbohydrate increase to up to 40 times their usual level. -
How microbes shape human health: an interview with Andrei Osterman
Microbes living in and on our bodies are key players in our health, and their power can be harnessed to enhance it. -
Fighting rare diseases: Finding treatments and bringing hope to families
Two patients whose lives were saved by discoveries made by Hudson Freeze, Ph.D., and José Luis Millán, Ph.D., joined the scientists for a conversation about what this work means to them and how their lives have been impacted. -
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
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
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma.
Okonechnikov K, Camgöz A, Chapman O, Wani S, Park DE, Hübner JM, Chakraborty A, Pagadala M, Bump R, Chandran S, Kraft K, Acuna-Hidalgo R, Reid D, Sikkink K, Mauermann M, Juarez EF, Jenseit A, Robinson JT, Pajtler KW, Milde T, Jäger N, Fiesel P, Morgan L, Sridhar S, Coufal NG, Levy M, Malicki D, Hobbs C, Kingsmore S, Nahas S, Snuderl M, Crawford J, Wechsler-Reya RJ, Davidson TB, Cotter J, Michaiel G, Fleischhack G, Mundlos S, Schmitt A, Carter H, Michealraj KA, Kumar SA, Taylor MD, Rich J, Buchholz F, Mesirov JP, Pfister SM, Ay F, Dixon JR, Kool M, Chavez L
Nat Commun 2023 Apr 21 ;14(1):2300
β2-microglobulin functions as an endogenous NMDAR antagonist to impair synaptic function.
Gao Y, Hong Y, Huang L, Zheng S, Zhang H, Wang S, Yao Y, Zhao Y, Zhu L, Xu Q, Chai X, Zeng Y, Zeng Y, Zheng L, Zhou Y, Luo H, Zhang X, Zhang H, Zhou Y, Fu G, Sun H, Huang TY, Zheng Q, Xu H, Wang X
Cell 2023 Mar 2 ;186(5):1026-1038.e20
Weighing the Evidence for the Roles of Plasma Versus Local Pyrophosphate in Ectopic Calcification Disorders.
Ralph D, Levine M, Millán JL, Uitto J, Li Q
J Bone Miner Res 2023 Apr ;38(4):457-463
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD
J Inherit Metab Dis 2023 Mar ;46(2):326-334
Resolving the conflicts around Par2 opposing roles in regeneration by comparing immune-mediated and toxic-induced injuries.
Reches G, Blondheim Shraga NR, Carrette F, Malka A, Saleev N, Gubbay Y, Ertracht O, Haviv I, Bradley LM, Levine F, Piran R
Inflamm Regen 2022 Nov 29 ;42(1):52
Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Hendrikse LD, Haldipur P, Saulnier O, Millman J, Sjoboen AH, Erickson AW, Ong W, Gordon V, Coudière-Morrison L, Mercier AL, Shokouhian M, Suárez RA, Ly M, Borlase S, Scott DS, Vladoiu MC, Farooq H, Sirbu O, Nakashima T, Nambu S, Funakoshi Y, Bahcheli A, Diaz-Mejia JJ, Golser J, Bach K, Phuong-Bao T, Skowron P, Wang EY, Kumar SA, Balin P, Visvanathan A, Lee JJY, Ayoub R, Chen X, Chen X, Mungall KL, Luu B, Bérubé P, Wang YC, Pfister SM, Kim SK, Delattre O, Bourdeaut F, Doz F, Masliah-Planchon J, Grajkowska WA, Loukides J, Dirks P, Fèvre-Montange M, Jouvet A, French PJ, Kros JM, Zitterbart K, Bailey SD, Eberhart CG, Rao AAN, Giannini C, Olson JM, Garami M, Hauser P, Phillips JJ, Ra YS, de Torres C, Mora J, Li KKW, Ng HK, Poon WS, Pollack IF, López-Aguilar E, Gillespie GY, Van Meter TE, Shofuda T, Vibhakar R, Thompson RC, Cooper MK, Rubin JB, Kumabe T, Jung S, Lach B, Iolascon A, Ferrucci V, de Antonellis P, Zollo M, Cinalli G, Robinson S, Stearns DS, Van Meir EG, Porrati P, Finocchiaro G, Massimino M, Carlotti CG, Faria CC, Roussel MF, Boop F, Chan JA, Aldinger KA, Razavi F, Silvestri E, McLendon RE, Thompson EM, Ansari M, Garre ML, Chico F, Eguía P, Pérezpeña M, Morrissy AS, Cavalli FMG, Wu X, Daniels C, Rich JN, Jones SJM, Moore RA, Marra MA, Huang X, Reimand J, Sorensen PH, Wechsler-Reya RJ, Weiss WA, Pugh TJ, Garzia L, Kleinman CL, Stein LD, Jabado N, Malkin D, Ayrault O, Golden JA, Ellison DW, Doble B, Ramaswamy V, Werbowetski-Ogilvie TE, Suzuki H, Millen KJ, Taylor MD
Nature 2022 Dec ;612(7940):E12
