Niemann-Pick Disease is a genetic lysosomal storage disease. Lipids accumulate in the lysosomes of cells, causing debilitating symptoms. There are three forms of the disease- A, B, and C. Each…
According to an article at Gaucher Disease News, the first known case of a person with both Gaucher disease and severe congenital neutropenia was examined in a case study that…
The Heritage Florida Jewish News reported a story about one sister's journey to her Gaucher Disease diagnosis, thanks to her older sister's wedding prep. What is Gaucher Disease? Gaucher disease…
We all got really excited last year when India implemented a new plan to benefit rare disease patients. It was called the National Rare Disease Policy. Basically, it put 12.86…
According to a story from the Australian Jewish News, a Jewish teen named Gidon Goodman was born with Gaucher disease. Recently, he started the first Gaucher disease patient support group…
According to a story from globenewswire.com, the biopharmaceutical company Orphazyme has officially endorsed a set of guidelines that outline how rare disease patient advocacy organizations and drug companies should interact…
According to a story from PR Newswire, a new program called The Lantern Project is working to provide a free testing program that allow doctors to more quickly diagnose patients…
According to a story from McGill University, a group of Canadian researchers have discovered a mutation in the French-Canadian population that is linked to diseases including multiple system atrophy, Parkinson's…
Avrobio has received no objection from Health Canada for their clinical trial application for their Phase 1/2 study of an investigational gene therapy for Gaucher disease. Following this news, Avrobio…
I have Gaucher disease. I often wonder what it would be like to not have this disease. But then I stop and redirect my thoughts. I’ve spent too much time in the…
October 1st is International Gaucher Day! What is Gaucher Disease? Gaucher disease is a lysosomal storage disorder in which the activity of the enzyme beta-glucocerebrosidase is incredibly low or non-existent.…
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…
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