From genetically engineered rice cells, scientists have produced human beta-glucocerebrosidase (GCase) — the enzyme deficient in Gaucher disease — with some of the therapeutic properties of the treatment Cerezyme, a study reports. This method may offer a safer, more cost-effective alternative to the…
Discouraged by doctors. Ridiculed by classmates. Challenged on the homefront. Despite the physical and emotional trauma endured by Madeline Collin — who has Gaucher disease — this cheerful 24-year-old says her ambition in life is “to be a voice of hope and encouragement.” The British university student talked about her struggles…
Enzyme replacement therapy (ERT) has limited effectiveness in addressing bone-related symptoms in Gaucher disease, namely the death of bone tissue due to loss of blood supply, a case study shows. The findings suggest that bone health should be closely monitored in these patients. The study, “Bone manifestations in neuronopathic Gaucher…
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…
Adults with Gaucher disease type 1 (GD1) show a high prevalence of irreversible bone lesions, despite reaching treatment goals for reduced levels of blood cells, according to a study. Findings also indicated that low bone formation, bone marrow infiltration, and spleen removal may be implicated in these lesions. The…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
Although rare, aneurysms of the splenic artery are most likely underreported among patients with Gaucher disease, a case report study says. The case report, “Splenic Artery Aneurysms, a Rare Complication of Type 1 Gaucher Disease: Report of Five Cases,” was published in the Journal of Clinical Medicine.
Gaucher disease patients — especially those receiving enzyme replacement therapy — have a higher incidence of complications and other diseases than the general population, and so they should be carefully monitored by their physicians, regardless of their treatment status, an Israeli study shows. The study, “Population-based cohort of 500…
A new study reports the spectrum of mutations present in Gaucher disease patients in India, identifying four previously unknown mutations and suggesting which ones might be most prevalent in that population. The study, “Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the…
