Sanford Children's Health Research Center

Sanford Children's Health Research Center

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.

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Latest news

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

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K, DDD Study., Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM

Am J Hum Genet 2020 Jul 2 ;107(1):164-172

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.

Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S

Genet Med 2020 May 28 ;

Tumor necrosis factor overcomes immune evasion in p53-mutant medulloblastoma.

Garancher A, Suzuki H, Haricharan S, Chau LQ, Masihi MB, Rusert JM, Norris PS, Carrette F, Romero MM, Morrissy SA, Skowron P, Cavalli FMG, Farooq H, Ramaswamy V, Jones SJM, Moore RA, Mungall AJ, Ma Y, Thiessen N, Li Y, Morcavallo A, Qi L, Kogiso M, Du Y, Baxter P, Henderson JJ, Crawford JR, Levy ML, Olson JM, Cho YJ, Deshpande AJ, Li XN, Chesler L, Marra MA, Wajant H, Becher OJ, Bradley LM, Ware CF, Taylor MD, Wechsler-Reya RJ

Nat Neurosci 2020 Jul ;23(7):842-853

A Critical Role for Estrogen-Related Receptor Signaling in Cardiac Maturation.

Sakamoto T, Matsuura TR, Wan S, Ryba DM, Kim JU, Won KJ, Lai L, Petucci C, Petrenko N, Musunuru K, Vega RB, Kelly DP

Circ Res 2020 Jun 5 ;126(12):1685-1702

Targeting metabolic activity in high-risk neuroblastoma through Monocarboxylate Transporter 1 (MCT1) inhibition.

Khan A, Valli E, Lam H, Scott DA, Murray J, Hanssen KM, Eden G, Gamble LD, Pandher R, Flemming CL, Allan S, Osterman AL, Haber M, Norris MD, Fletcher JI, Yu DMT

Oncogene 2020 Apr ;39(17):3555-3570

Expanding the molecular and clinical phenotypes of FUT8-CDG.

Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH

J Inherit Metab Dis 2020 Feb 12 ;

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