Doctors and scientists have already made tremendous progress in the diagnosis and treatment of rare diseases, including Gaucher disease. However, many patients and families still experience a significant psychosocial burden. Often, those living with the disease must become their own “disease experts” as they navigate the healthcare landscape, deal with significant financial challenges, and learn… Read More »
For 10 years, Nate struggled to receive a diagnosis for his excruciating bone pain. He was finally diagnosed with Gaucher disease and made a miraculous recovery.
Scientists have been searching for a cure for all genetic diseases, including Gaucher disease, for more than 40 years. Since inherited genetic disorders result from an altered sequence of genes located on chromosomes within each cell in your body, a cure must permanently reverse the underlying genetic mutations that cause Gaucher disease(1). Beginning in the… Read More »
According to current estimates, as many as one in three Ashkenazi Jews, those with Eastern European descent, are carriers for certain genetic diseases, including Gaucher disease. Researchers think Ashkenazi genetic diseases arise because of the common ancestry many Jews share. While people from any ethnic group can develop genetic diseases, Ashkenazi Jews are at higher… Read More »
National Gaucher Foundation is saddened by the sudden passing of Henri A. Termeer, the former chief executive officer (CEO) of Genzyme Corp. Described by a former colleague as “the dean of the biotech community,” Henri’s contributions to lysosomal storage diseases including Gaucher disease and other rare diseases are immeasurable. May his memory be for a blessing.
When it comes to improving Gaucher disease treatment, knowledge is power. The more data the medical community can gather on this rare condition, the better equipped they are to develop new ways of treating it. That’s where the International Collaborative Gaucher Group (ICGG) Gaucher Registry comes in. Launched in 1991, and directed by an international… Read More »
For those whose lives are touched by Gaucher disease types 1 and 3, ERT (enzyme replacement therapy) and SRT (substrate reduction therapy) are often part of their regular routines. But in 1991, when the FDA approved the first form of ERT, this breakthrough felt miraculous, radically easing the disease’s signs and symptoms. This was followed… Read More »
A rare condition affecting about 1 in 40,000 live births, Gaucher disease has not always been a research priority. But times are changing. Since 1998, Dr. Ellen Sidransky, head of the Molecular Neurogenetics Section in the National Human Genome Research Institute of the National Institutes of Health in Maryland, has been at the forefront of… Read More »
The 2017 WORLD Symposium was held February 13 – 17 in San Diego, CA. This is an international symposium focused on rare lysosomal storage disorders (LSD’s) for which over 1,500 participants attend. Participants range from expert physicians, researchers and treatment innovators in the field of LSD’s to patient advocacy leaders for organizations focused upon LSD’s…. Read More »