The Malaysia Lysosomal Diseases Association (MLDA) was formed in 2011 by the hands of eight families. Their goal was to raise awareness and funds for those diagnosed with lysosomal storage…
Gaucher patients in New Zealand are facing a change. New Zealand’s Pharmaceutical Management Agency (PHARMAC) recently proposed a change in their supported Gaucher treatment from Cerezyme to Elelyso. The switch…
Scientists are researching the possibility of fetal gene therapies as possible cures for rare diseases, such as Duchenne muscular dystrophy, hemophilia, sickle cell disease, and Gaucher's disease. With fetal gene…
According to a recent article for myscience.org, there is new potential for genetic therapy to cure the often deadly neurodegenerative disorder known as Gaucher disease. The new studies were first…
Is there a genetic condition in your family? Are you concerned about the potential for passing this on to your children one day? Do you know if you are a…
According to a story from nature.com, gene therapy administered to fetuses could help curtail some of the worst effects of deadly genetic disorders. In a mouse model study, fetal delivery…
According to The Hindu, the Institute of Child Health (ICH) in Egmore, India is soon going to be able to offer more medical options to children with lysosomal storage disorders…
According to a story from GlobeNewsWire, the biopharmaceutical company Orphazyme A/S, which is committed to the development of treatments for patients that are living with rare diseases, has recently announced…
According to a story from CheckOrphan, Express Scripts has prepared a Rare Conditions Care Value (RCCV) program. This program is designed to help make the diagnosis and treatment process for…
According to WBUR, treatments like CAR-T and CRISPR are on the cutting edge. They’re important to keep an eye on as the future of medical technology and treatment. They’re not…
The companies Centogene and Orphazyme are collaborating on a clinical trial of the experimental small molecule therapy arimoclomol for Gaucher disease. The full article can be read here, at BusinessWire. Gaucher…
In an effort to better understand patient experiences, researchers at the Massachusetts General Hospital are surveying people with lysosomal storage diseases about how they view their treatments, reports CheckOrphan. The…
Dena Winchester, a sophomore at Rutgers University, faces the struggles that come with her condition by advocating for change, reports New Jersey Jewish News. After she was diagnosed with lipodystrophy…
There are fifty genetic diseases that can be characterized as lysosomal storage diseases (LSDs). Gaucher disease can be characterized as such. LSDs make up about one in every 8,000 births…
A new case study suggests that the blood disorder, thalassemia, may be present in people with Gaucher disease. Both diagnosis and treatment become more complicated if this hypothesis proves true.…
Despite the obvious cliché nature of the old adage, knowledge really is power. Technology and medical advancements give doctors and researchers more information than anyone could have fathomed even a…
Originally reported by The Straits Times, the Chew family from Singapore does everything they can to keep their nine-year-old daughter alive, even if it means spending their life savings and…
A study recently published in the journal, Brain, has suggested that deficiencies in lysosomal storage genes may promote the development of Parkinson’s disease. Parkinson’s disease is a central nervous system…
One young lady is working to bring awareness to Gaucher disease through blogging. Not only does Lauren Edwards share inspirational posts and pictures, she also shares the personal stories of…
A team of researchers at the Cincinnati Children’s Hospital Medical Center has developed a method to test for Gaucher disease using dried blood samples - marking a big breakthrough for the Gaucher…
It's Guacher Disease Awareness Month! According to eurogaucher.org, International Gaucher Day was a success! This year it was observed on October 1st to bring awareness to Gaucher disease. The European Gaucher…
October is a time for celebrating autumn and Halloween in the US. But it's also Gaucher Disease Awareness Month! Mark your calendars for this Gaucher Disease event: Who: The National…
We’ve all been there. In the grocery store or at the mall or at the amusement park, when a child starts to act out, much to the chagrin of the…
Researchers have recently released some exciting news for Gaucher disease patients: a combination of two imaging techniques has been shown to better evaluate the risk of Gaucher patients developing bone…
Great news for our friends in the the Gaucher community! The FDA and its counterpart across the pond, the European Medicines Agency (EMA), have outlined a new strategy to spur…
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