Hemophilia Treatment and Research

Engineered coagulation factor VIII with enhanced secretion and coagulation potential for hemophilia A gene therapy

This paper develops engineered FVIII variants for hemophilia A gene therapy, showing improved secretion, coagulation activity, and efficacy at lower vector doses in mice and macaques.

Universal base editing for hemophilia B

This study uses base editing to create a universal FIX variant for hemophilia B treatment, increasing FIX activity in cell and mouse models.

A Precision Gene Engineered B Cell Medicine Producing Sustained Levels of Active Factor IX for Hemophilia B Therapy

This paper describes a gene-engineered B Cell Medicine (BE-101) that produces sustained active factor IX for hemophilia B therapy, showing durable and redosable effects in mice.

Overcoming Hemophilia A Gene Therapy Limitations with an Enhanced Function Factor VIII Variant

This study shows an enhanced FVIII variant (FVIII-QQ) can normalize hemostasis at low expression levels in hemophilia A mice, potentially improving gene therapy durability and safety.

Correction of a Factor VIII genomic inversion with designer-recombinases

This study corrects a 140 kb genomic inversion in the F8 gene using a designer recombinase system, restoring Factor VIII mRNA expression in patient-derived cells.

Factor VIII exhibits chaperone-dependent and glucose-regulated reversible amyloid formation in the endoplasmic reticulum

This study identifies factors causing FVIII aggregation in the ER and shows that chaperones and glucose metabolism regulate its solubility and secretion.

A mathematical model of flow-mediated coagulation identifies factor V as a modifier of thrombin generation in hemophilia A

The paper uses a mathematical model of coagulation under flow to identify factor V as a modifier of thrombin generation in hemophilia A, showing its interaction with factor VIII.

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter

The paper identifies a single nucleotide deletion in the F9 gene promoter of a Hovawart family causing hemophilia B resembling human hemophilia B Leyden, with reduced factor IX expression and altered transcription factor binding.