The benefits of newborn screening for lysosomal storage disorders such as Gaucher disease were not directly apparent 15 months after Illinois launched statewide screening. Long-term follow-up is needed to assess the true benefits and risks of the screening, researchers from the Feinberg School of Medicine of Northwestern University…
Sanofi Genzyme established the Chart Your Own Course scholarship program back in 2013 to help students with lysosomal storage disorders pursue their dreams. Judges will select the 15 winners of this year’s fifth annual installment of the competition soon, according to a press release. And applications for 2018 will be…
Substrate reduction therapy (SRT) may help manage Gaucher disease symptoms that do not respond to first-line enzyme replacement therapies (ERT), according to a case report featured in the journal Molecular Genetics and Metabolism Report. The current main treatment options for Gaucher disease are ERT and SRT. ERT is based on…
Researchers found that combining a new, noninvasive technique called trabecular bone score (TBS) with bone mineral density techniques helps to better identify Gaucher disease patients at increased risk for bone fractures. The study, “Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density,” was published in the journal …
Although people with Gaucher disease have a higher risk of developing Parkinson’s disease later in life, the link between the two diseases is rarely addressed in a genetic counseling setting. But in implementing new strategies for genetic counseling, questions need to be discussed that are specific to the settings in which…
Regulatory agencies in the U.S. and Europe have joined forces to develop a proposal with the aim to spur innovative approaches in the development of new Gaucher disease treatments. The European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA) underscored that the proposal only…
A young boy with Gaucher disease type 1 and hearing loss improved his hearing after receiving cochlear implants in both ears. A cochlear implant is an electronic medical device that does the work of damaged parts of the inner ear (cochlea) to provide sound signals to the brain. Doctors report…
Abnormal behavioral patterns, including increased aggressiveness and anger, can be symptoms of Gaucher disease (GD) type 3 and also markers of disease progression, according to researchers. The study, “Previously unrecognized behavioral phenotype in Gaucher disease type 3,” was published in the journal Neurology Genetics. Patients with Gaucher disease type 3…
The plant–based enzyme Elelyso (taliglucerase alfa), developed by Protalix and Pfizer as an intravenous enzyme replacement therapy (ERT), is seen as effective and safe for the treatment of children with Type 1 Gaucher disease (GD), a literature review from 1995 to 2016 found. Elelyso therapy in pediatric patients showed…
Project HOPE has named UnitedHealth Group and the Gaucher Initiative in Egypt the recipients of its 2017 Global Health Awards. The awards, handed out during the nonprofit organization’s June 13 annual gala at New York’s Pierre Hotel, recognize two groups: the employees of UnitedHealth Group who for more than 10…
