People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of…
Articles by Marta Figueiredo, PhD
Eli Lilly reached an agreement to acquire Prevail Therapeutics, including its clinical program for …
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with…
Measuring the levels of glucosylsphingosine (Lyso-Gb1) — a diagnostic biomarker of Gaucher disease — in dried blood spots…
Long-term treatment with Cerdelga (eliglustat) safely and consistently lessens or stabilizes disease severity in adults with Gaucher disease…
Adding ambroxol to enzyme replacement therapy (ERT) lowers the levels of glucosylsphingosine (lyso-Gb1) — a known diagnostic and…
Researchers have found two new mutations associated with Gaucher disease type 1 (GD1) in four Indian adults. The researchers…
Switching patients with Gaucher disease type 1 (GD1) from enzyme replacement therapy (ERT) to Cerdelga (eliglustat), an oral substrate…
Generating specific bone cells derived from Gaucher patients may be used to monitor the progression of bone disease and predict…
Delivery of a systemic gene therapy restored the production of glucocerebrosidase — the deficient enzyme in Gaucher disease — in several…