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Gaucher disease (Gaucher's disease)

Gaucher Disease Awareness Month As a result of research, development and years of education and outreach, there are thousands of people who have been diagnosed with Gaucher disease. It is the most prevalent Lysosomal Storage Disorder (LSD) in the world and is present in approximately 1 in 20,000 live births.

These are a group of disorders that affect specific enzymes which normally break down materials for reuse in the cells. If the enzymes are missing or don't work properly the materials can build up and become toxic.

Although Gaucher disease can affect anyone, Gaucher disease type 1 is the most common inherited Jewish genetic disease affecting Jews of Ashkenazic descent. Approximately 1 in 450 have Gaucher and 1 in 10 are carriers.

Since Gaucher disease is an autosomal recessive disorder, both parents must carry the Gaucher gene in order to pass it on to their children. It is imperative that we become better educated about Gaucher disease, especially if there is a family history. Presently, there is no cure for Gaucher disease, however there are a number of treatments available, including palliative care. Course of treatment is determined by a Gaucher specialist.

Gaucher disease, also known as glucocerebrosidase deficiency, occurs when a lipid called glucosylceramide accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Despite the fact that the disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. Depending on the type, Gaucher disease symptoms can include fatigue, anemia, easy bruising and bleeding, severe bone pain and easily broken bones, distended stomach due to an enlarged spleen and more.

Unlike 1984, when research on the first drug was being conducted, today, there are many options, tools, treatments and programs available for those with Gaucher disease. Because of the progress and great strides that have been made, our children and our grandchildren may never have to suffer the debilitating and painful affects of Gaucher disease.

Learn more about Gaucher disease treatments, symptoms and programs by clicking the menus below.

Prevalence/Transmission | Symptoms | Testing | Treatments | Clinical Course | Gaucher types 2 and 3
Gaucher-related Videos | Resources | NGF Gaucher Network Registry | Mentor Program

National Gaucher Conference - Register Today!
For information and registration, click here!
Bethesda, MD - Oct 18 & 19, 2015

The National Gaucher Foundation, Inc. (NGF)

The National Gaucher Foundation, Inc. (NGF)The National Gaucher Foundation, Inc. welcomes you to its website. Whether you or your family members are newly diagnosed, misdiagnosed or are currently being treated for Gaucher disease, we want you to know that you are never alone and will always have a place to turn. The Foundation comprises a talented and dedicated group of people who have contributed to its sucess for more than 31 years. We are here to here to help you find physicians, treatment, financial assistance and information related to all aspects of Gaucher disease.

We are the only independent, non-profit organization of its kind serving the Gaucher community in the US. Founded in 1984, the NGF funded millions of research dollars toward the cause, treatments and cure for Gaucher disease. We are an objective, independent voice of the Gaucher community, providing leadership, outreach and innovative thinking. The number of families and individuals affected by Gaucher disease have grown tremendously, necessitating more services and programs. Since its founding, the NGF has risen to the challenges those needs presented by fostering growth and development of its programs and services.

The NGF provides support and help by granting financial assistance and lobbying for legislation on behalf of Gaucher and other rare diseases. Our patient meetings, conferences, events and marketing programs have provided education and awareness of Gaucher disease for more than 30 years. More recently, other programs important to the Gaucher community have been added and include a Mentor program and the first patient-centered Gaucher registry (GNR).

For more information, contact ngf@gaucherdisease.org or call 800-504-3189.

NGF's Gaucher Network Registry
Click here to register TODAY!
First secure patient-centered registry of its kind.

Support the NGF!

Support the NGFDonating just became easier. Text "GAUCHER" to 41444.

Through education and awareness programs, we can help individuals who have been misdiagnosed, undiagnosed or know nothing about Gaucher.

The money raised by the NGF helps fund awareness and outreach programs. Your donations make these educational programs possible.

Click here to donate!

NGF Mentor Program

The Gaucher Mentor Program provides people with Gaucher disease the opportunity to connect with others to share experiences, stories, and resources related to Gaucher disease. You have direct contact with individuals who have experienced and problem-solved many of the questions that families and individuals with Gaucher may have.

Click here for more information!

Financial Support

Much has changed in the Gaucher community. New treatments have been approved, new treatment facilities identified, and there are many changes in protocol. We at the National Gaucher CARE Foundation want you to know that the CARE and CARE+PLUS Programs are available to all individuals, whether you are on therapy or not.

Click here for more information!

What's new?

Tuscon Mother, Shanna Kovach to Hold Gaucher Youth Gathering and Duck Tour in Boston, MA
Sep 1, 2015 - The theme of the meeting is "Building Bridges: Young Gaucher Mentors and Community Gathering". Shanna's goal for this gathering is to help her 14 year old daughter, Emberly,who will soon be embarking upon enzyme replacement therapy for Gaucher Disease. Read more
Non-invasive test for Gaucher disease developed
Non-invasive test for Gaucher disease developedSep 1, 2015 - Researchers at Jerusalem’s Shaare Zedek Medical Center have developed a new technique to discover hereditary diseases in young embryos and fetuses in natural pregnancies without the need to examine samples of amniotic fluid in the uterus. Read more
NGF Patient Survey Results
Aug 31, 2015 - This survey of 70 Gaucher patients was conducted via phone June/July, 2015 as part of the National Gaucher Foundation, Inc.’s Gaucher Awareness projects. Prior to Awareness Month, The NGF will also post an online survey for patients, caregivers and families in preparation for its 2016 education and awareness program. Read survey results
BACK TO SCHOOL: For nutrition, think outside lunch box
Do the New FDA Nutrition Labels Encourage Gluttony?Aug 31, 2015 - Eating healthy while at school not only helps youngsters grow, but enables them to stay alert, engaged and focused throughout the day, says a public health dietitian with the Brant County Health Unit. "Packing a healthy lunch all the time can be a challenge in a busy household,". Read more
Nutritional health most valued among the young and affluent | Gustafson
Aug 19, 2015 - You would have thought, "the older, the wiser." But when it comes to diet and lifestyle choices, today’s young people seem to be doing better than any generation living before them. In a survey conducted by Nielsen, an international market research company. Read more
Do the New FDA Nutrition Labels Encourage Gluttony?
Do the New FDA Nutrition Labels Encourage Gluttony?Aug 18, 2015 - Last year, the Food and Drug Administration announced it would be overhauling its Nutrition Facts label for the first time in more than 20 years. Among proposed changes to the chart, which is found on most food packaging, is a more realistic assessment of serving size. Read more
Shaare Zedek Researchers Develop Technique to Detect Hereditary Diseases
Shaare Zedek Researchers Develop Technique to Detect Hereditary DiseasesSep 3, 2015 - A research team, headed by Dr. Gheona Altarescu, head of the pre-implantation genetic diagnosis project at Shaare Zedek Medical Center’s Fuld Family Institute for Medical Genetics, together with Dr. David Ze’evi, has developed a new technique to detect hereditary diseases. Read more
Altered protein found to cause rare Parkinson’s-like disease
Altered protein found to cause rare Parkinson’s-like diseaseAug 31, 2015 - When Stanley B. Prusiner, a UCSF neurologist, first proposed that inert proteins he called prions could somehow fold into strange shapes and infect humans with rare diseases of the brain, his idea 30 years ago was widely dismissed as nonsense. Read more
Global Genes Announces Celebrities, Iconic Athletes and Pop Stars Joining the Fourth Annual RARE Tribute to Champions of Hope Gala
Aug 25, 2015 - Global Genes™ is pleased to announce celebrities, iconic athletes and pop stars that will be joining the 4th Annual RARE Tribute to Champions of Hope gala on September 26, 2015 at the Hyatt Regency Huntington Beach Resort and Spa in Huntington Beach, CA. Read more
McCrory signs law to battle rare diseases
McCrory signs law to battle rare diseasesAug 17, 2015 - These diseases can prove difficult to attack. Although some 25 million people in the United States suffer from a rare disease, more people than cancer and HIV combined. However, there are 7,000 different rare diseases, and – as the name suggests. Read more
Charlotte Charity Inspires New Law Designed to Spur Treatments for Rare Diseases and Economic Growth for North Carolina
Aug 12, 2015 - Charlotte charity Taylor’s Tale helped inspire a law designed to stimulate the creation of new treatments for rare diseases and spur economic development in North Carolina. House Bill 823, signed into law by Governor McCrory on August 6. Read more
Sen. Casey pushes for expansion of research into rare pediatric diseases
Parents seeks treatment for 4-year-old son's rare illness which causes stomach to swellAug 1, 2015 - Adelyn Rinaldi is 2 months old and surviving in a hospital bed on enzyme therapy that treats a rare bone disorder called hypophosphatasia. Only about a dozen living children have her form of the disease worldwide, her mother said. Read more
How to Discuss Genetic Disease with Your Loved Ones
Toolkits for rare diseases produced by Global Genes. This toolkit is based on the Global Genes Webinar “How to Discuss Genetic Disease with Your Loved Ones” that was originally webcast April 1, 2015. A replay can be viewed at http://globalgenes.org/april2015webinar/
Read more
Resource of the Month
Jewish Genetic Disease Consortium
An alliance of individuals and organizations working together to prevent Jewish Genetic Diseases through education, awareness and testing. The Jewish Genetic Disease Consortium (JGDC) increases awareness about Jewish genetic diseases (JGDs) and encourages timely and appropriate genetic screening for all persons of Jewish heritage.

The JGDC is comprised of an alliance of not-for-profit organizations sharing a common goal of combating Jewish genetic diseases. While each JGDC member organization has its own individual mission, the JGDC unites these organizations so that we may jointly strengthen public education and awareness and urge appropriate genetic screening for all persons of Jewish heritage, whether Ashkenazi, Mizrahi or Sephardic. Read more