A series of studies were carried out in Farber disease (OMIM #228000) cells and mice to evaluate the feasibility of enzyme replacement therapy (ERT) for this disorder. Media from Chinese hamster ovary (CHO) cells overexpressing human recombinant acid ceramidase (rhAC) was used to treat fibroblasts from a Farber disease patient, leading to significantly reduced ceramide. We also found that chond...

The specific activity of acid ceramidase (N-acylsphingosine deacylase, EC 3.5.1.23) was measured at pH4.5 in normal fibroblasts and in fibroblasts from patients with Farber disease and obligate heterozygotes. Greater activity was found when the synthetically made ceramide substrates contained shorter-chain fatty acids or higher content of double bonds. Acid ceramidase activities towards N-lauro...

BACKGROUND Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes. Children with significant neurological involvement usually die early in infancy, whereas patients without or only mild neurological findings suffer from progressive joint deformation and contractures, subcutaneous nodu...

Harvard Medical School, Boston, Massachusetts Department of Neurosurgery, Dana-Farber/Brigham & Women’s Cancer Center, Boston, Massachusetts Department of Pathology, Dana-Farber/Brigham & Women’s Cancer Center, Boston, Massachusetts York Hospital Oncology, York, Maine Department of Medical Oncology, Dana-Farber/Brigham & Women’s Cancer Center, Boston, Massachusetts Department of Radiation Oncol...

An estimated 1 in every 182 Americans will be diagnosed with cancer this year. Providing them safe care has inherent challenges, such as reaching an accurate diagnosis quickly possible, differentiating between disease progression and treatment side effects, addressing broader systemic risks. Managing editor, Caitlyn Allen, sat down medical oncologist former chief quality officer of the Dana-Far...