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.
Symposium
March 1–3, 2024
In 2024, in partnership with CDG CARE and the Sanford Children’s Health Research Center, the Sanford Burnham Prebys Rare Disease Day Symposium will continue to focus on Congenital Disorders of Glycosylation “CDG Models and Therapy”.
Latest news
-
Hudson Freeze joins experts to discuss testing to help CAD-affected children
Hudson Freeze joined an international panel of genetics experts on CAD deficiency: Beyond the genetics—a podcast offered by the Journal of Inherited Metabolic Disease. -
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:
-
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.
-
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
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 Multifarious Functions of Leukotrienes in Bone Metabolism.
Amadeu de Oliveira F, Tokuhara CK, Veeriah V, Domezi JP, Santesso MR, Cestari TM, Ventura TMO, Matos AA, Dionísio T, Ferreira MR, Ortiz RC, Duarte MAH, Buzalaf MAR, Ponce JB, Sorgi CA, Faccioli LH, Buzalaf CP, de Oliveira RC
J Bone Miner Res 2023 Jun 14 ;
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, Broderick L
N Engl J Med 2023 Jun 15 ;388(24):2241-2252
Dentoalveolar Alterations in an Adenine-Induced Chronic Kidney Disease Mouse Model.
Mohamed FF, Amadeu de Oliveira F, Kinoshita Y, Yalamanchili RR, Eltilib LA, Andras NL, Narisawa S, Tani T, Chu EY, Millán JL, Foster BL
J Bone Miner Res 2023 May 16 ;
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
Milk glycan metabolism by intestinal bifidobacteria: insights from comparative genomics.
Arzamasov AA, Osterman AL
Crit Rev Biochem Mol Biol 2022 Oct-Dec ;57(5-6):562-584
