BPGbio Receives FDA Orphan Drug Designation for BPM31510 for the Treatment of Primary CoQ10 Deficiency

BPGbio, Inc., a leading biology-first, AI-powered clinical-stage biopharma company, today announced that the U.S. Food and ...
WTEN

Malta family spreading awareness about rare genetic disorder

Rian McCann is almost seven years old. Her parents, Danielle and Frank described her as kind, sassy, smart and above all, resilient. Rian was born with CDKL5 Deficiency Disorder — which prevents her ...
Scientific Research Publishing

Congenital Factor VII Deficiency Revealed in the Neonatal Period: A Case Report at CHNEAR ()

Congenital factor VII deficiency is a rare, autosomal recessive disorder with an estimated prevalence of 1 in 1,000,000. We ...
BioTechniques

Phosphorylate to combobulate: key kinase target identified in the pathogenesis of genetic epilepsy

The mechanism behind a type of genetic epilepsy known as CDKL5 deficiency disorder has been elucidated, highlighting a potential target for novel therapeutic approaches. In a recent paper, researchers ...
The American Journal of Managed Care

Ligneous Lesions Often Misdiagnosed in Rare Plasminogen Deficiency: Dr Amy Shapiro

Amy Shapiro, MD, medical director of Indiana Hemophilia and Thrombosis Center, joined AJMC to shed light on a broadly overlooked disorder: plasminogen deficiency type-1. Plasminogen deficiency is a ...