Infantile hemangioma (IH) is the most common benign vascular tumor seen in childhood. After an early proliferative phase in the first weeks of life, the majority of hemangiomas complete their growth and start to involute by approximately 12 months.
A new epigenetic editing technique has restored the functionality of neurons in Rett syndrome (RTT), a rare neurodevelopmental disease associated with a mutation of the MECP2 gene on the X chromosome. The origin of this disorder is a heterozygous mutation of the MECP2 (methyl CpG-binding protein 2) gene. Homozygosity is lethal and as it is associated with the X chromosome; Rett mostly affects girls, inhibiting the development of their motor skills and communication.
By combining drug sensitivity with genomic profiling of tumor cells, a study from St. Jude Children's Research Hospital with more than 800 patients has shown a wide diversity in drug sensitivity for pediatric acute lymphoblastic leukemia (ALL) and defined six patterns of response to treatment. “This work provides a framework for ‘functional precision medicine’,” corresponding author Jun Yang, vice chair of the Department of Pharmacy and Pharmaceutical Sciences at St. Jude Children's Research Hospital, told BioWorld.
The FDA has awarded rare pediatric disease designation to Orphagen Pharmaceuticals Inc.'s OR-449 for the treatment of pediatric adrenocortical carcinoma (ACC). OR-449 is a selective, first-in-class, potent and orally bioavailable small-molecule antagonist to steroidogenic factor-1 (SF-1; NR5A1), an orphan nuclear receptor and transcription factor that is essential for the growth and development of the adrenal gland.
Rhabdomyosarcoma (RMS) occurs in 3% of all pediatric cancers. Aberrant Hedgehog (Hh) activation can be ligand-dependent or -independent, but current clinical Hh inhibitors targeting SMO are effective only for ligand-independent tumors. Researchers at Vall d’Hebron Institut de Recerca, Barcelona, Spain, developed a targeted therapeutic for Hh ligand-dependent tumors.
Researchers from Astellas Pharma Inc. presented preclinical data for the novel 5-HT5A receptor antagonist, ASP-5736, being developed for the treatment of fragile X syndrome (FXS).
Metriopharm AG has received a grant of €125,000 from charity Duchenne UK that will support development of the company's lead compound MP-1032 (luminol sodium salt) for the treatment of Duchenne muscular dystrophy (DMD).
A germline change in a single nucleotide increased the risk by up to 6-fold of developing an isocitrate dehydrogenase (IDH) mutant low-grade glioma. The rs55705857 genotype could serve as a biomarker before surgery to identify an early glioma.
Mitochondrial disorders have shown phenotypic and genetic heterogeneity; cytochrome c oxidase assembly protein COX11 is an assembly factor that works as a copper chaperone. Previous findings have unveiled that COX11 knockdown causes a reduction in ATP production in vitro.
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