The Problem Lysosomal storage disorders (LSDs) affect approximately one out of every 7,000 people. There are around 50 different types of LSDs. These include Fabry disease, Batten disease, Gaucher disease,…
According to a story from the National Gaucher Foundation, a significant challenge for many patients with Gaucher disease are the effects that the illness can have on bones. Common treatments…
When one rare disease is found to be in some way similar to another rare disease, research can often be accelerated for both. For instance, recent discovery by a professor…
According to a story from Gaucher Disease News, life for 24 year old Madeline Collin, who has Gaucher disease, has never been easy. However, being subject to bullying and a…
According to a story from Korea Biomedical Review, the Sanofi Genzyme Korea, a subsidiary of the pharmaceutical company Sanofi, recently issued an announcement stating that the South Korean Ministry of…
Problems in China Around the world there are 7,000 rare diseases currently identified. Of these, researchers have uncovered effective treatment options for less than 10%. Sadly, even when diseases have…
The State of Rare Disease in India There are 7,000 known rare diseases worldwide. The Organization for Rare Diseases India (ORDI) estimates 70 million people are affected by a rare diagnosis…
According to a story from Gaucher Disease News, a recently published case report study suggests that instances of splenic artery aneurysm are being underreported in patients with Gaucher disease. The…
Rare disease isn't as rare as it sounds. Ten percent of Americans have a rare disease-- and there are almost 7,000 known rare diseases. A rare disease, also known as…
Second Annual International Congress on Advanced Treatments in Rare Diseases The first International Congress on Advanced Treatments in Rare Diseases, otherwise known as RARE2018, was held in London, England. Now,…
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…
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