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
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.
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
Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR
Pediatr Neurol 2019 May ;94:64-69
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)
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