GD23 Resources

This page is an ongoing work-in-progress, as I will be adding more information as I find it.


Patient Access Network (Gaucher’s Disease Fund)
Offers financial assistance up to $7,500 per year for medication, $1,000 per year for infusion visits

Introduction to Neuronopathic Gaucher’s Disease (Harris Labs)

National Library of Medicine

What’s Missing in Lysosomal Storage Diseases? – Amicus
(pdf – 6.5MB)

About Pharmacological Chaperones – Amicus
(pdf – 3.4MB)

From NGF:
Amicus Therapeutics
Amicus Therapeutics is a biopharmaceutical company developing novel, oral therapeutics known as pharmacological chaperones for the treatment of a range of human genetic diseases. The company is currently conducting research in Gaucher, Fabry and Pompe diseases.

This section of is designed to help you and your family learn about Type 1 Gaucher disease and treatment with Cerezyme® (imiglucerase for injection). What you learn here may help you discuss Gaucher disease more comfortably with your physician and other health care professionals.

Children’s Gaucher Research Fund
The Children’s Gaucher Research Fund is a non-profit organization that raises funds to coordinate and support research aimed at finding a cure for Gaucher disease (Type 2 and Type 3) as well as providing support to families who have children who battle this disease. Type 2 and Type 3 Gaucher disease is a progressive debilitating genetic disease which attacks children, causing a variety of systemic and neurological medical complications. Goal Find a cure for Type 2 and Type 3 Gaucher disease. Background Gregory and Deborah Macres are the founders of the Children’s Gaucher Research Fund. Their son Gregory, born January 29, 1993, passed away on April 13, 1997, due to Type 3 Gaucher disease.

Genetic Disease E-Mail Discussion List
An e-mail discussion list dealing with several genetic diseases, of which Gaucher Disease is the most common. The Genetic-Disease E-Mail Discussion List is an excellent way to connect with others interested in Gaucher disease. There is a strong patient presence and subscribers include professionals, researchers, religious leaders, family members, and others. The names and addresses of subscribers to this list are NOT publicly available.

Genzyme Therapeutics
In line with Genzyme’s commitment to develop products designed to address unmet medical needs, Genzyme Therapeutics concentrates on the treatment of genetic and chronically debilitating diseases. Research is directed at the underlying causes of disease and the development of the most effective long-term therapeutic solution. With six therapeutic products on the global market and a robust pipeline, we are helping to improve the quality of patients’ lives worldwide.

Horizons Newsletters:  Gaucher Community News published by Genzyme Corporation
This educational web site has been created for people living with Gaucher disease, their friends and families, and health care professionals.

Gauchers Association/UK
The Gauchers Association was formed in 1991 to meet the needs of those suffering from Gaucher disease. Its members are mainly in the UK and Ireland.

Gaucher Disease Associations
Associations from around the World are listed at this Gauchers Association/UK site.

Global Organisation for Lysosomal Storage Diseases (GOLD)
GOLD, the Global Organisation for Lysosomal Diseases, is an international collaboration of scientific and medical associations, patient groups, and commercial organisations dedicated to improving the lives of all patients with a lysosomal disease. Lysosomal Storage Diseases (LSDs) are a group of approximately 50 genetic (inherited) disorders, sharing common clinical and biochemical characteristics. Individually, each disease is rare, but by considering all LSDs as a common entity, the prevalence is approximately 1:5000 to 1:7000. GOLD believes significant progress can be made by building consensus and speaking with a united voice on behalf of the Lysosomal Diseases Community across international boundaries.

International Collaborative Gaucher Registry (ICGG)
The Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher Disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient’s treating physician. More than 4500 patients worldwide are enrolled.

The ICGG Gaucher Registry database is the largest ever assembled for Gaucher Disease. About 20% of the enrolled patients are as yet untreated and constitute a valuable resource for understanding the natural course in different Gaucher Disease phenotypes. The Gaucher Registry has provided the data for many published peer-reviewed scientific publications.

Lysosomal Storage Disease Network (LSD)
The Lysosomal Disease Network is a research consortium of scientists, laboratories, healthcare professionals and clinics working as networked centers of excellence to improve basic knowledge and understanding of lysosomal disorders, improve diagnosis, and advance therapeutic options for individuals affected by these disorders.

National Institutes of Health
NIH is the nation’s medical research agency – making important medical discoveries that improve health and save lives. Find health information with the A to Z index of NIH health resources, clinical trials, research, MedlinePlus and health hotlines. Find additional information on grants and funding opportunities, news and events, training & scientific resources.

National Organization for Rare Diseases (NORD)
The National Organization for Rare Disorders (NORD), a 501(c)3 organization, is a unique federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

A rare or “orphan” disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. For almost twenty years, NORD has served as the primary non-governmental clearinghouse for information on rare disorders. NORD also provides referrals support groups and other sources of assistance.

Protalix Biotherapeutics
Protalix has achieved successful expression of biologically active proteins including antibodies and other complex enzymes. Product capabilities also include plant-derived drugs and other therapeutic compounds.

The company is working closely with the regulatory authorities, that have approved and endorsed its Plant-cell based manufacturing bioreactor platform, as a safe and efficient solution for the expression of therapeutic proteins. Protalix’s lead compound – Glucocerebrosidase for the treatment of Gaucher’s disease has been approved to commence clinical trials (IND application) by the FDA, and recently a Phase I clinical study has been completed and final report confirmed highly satisfactory results. The Company is setting up a Phase III pivotal trials, planned to be initiated in the near future. The condensed clinical development route for this drug, should allow marketing approval within a short time.

Shire Human Genetic Therapies (Shire HGT)
A business unit of Shire Pharmaceuticals which is committed to developing novel therapies to treat life-threatening genetic diseases. In collaboration with academic researchers, physicians and patient associations worldwide, Shire HGT’s innovation and research are resulting in the development of exciting treatments for genetic diseases including Fabry disease, Hunter syndrome, and Gaucher disease… with more on the way.

Other Relevant Links
Adult Metabolic Diseases Clinic
Albany Medical Center
NYU Medical Center
Comprehensive Gaucher Treatment Center, L.A.
Expression Of Hope
Gift of Life Bone Marrow Registry
Harvard University Virtual Library for the Biosciences
Hillel and Jewish Student Organizations
Inherited Metabolic Disorders website
Jewish Associated Diseases Action Committee
Jewish Genetic Disease – Genetic Screening Directory
Jewish Virtual Library
Lysosomal Learning
National Library of Medicine
New England Journal of Medicine
UCSF-Stanford Lysosomal Disease Center
University of Pittsburgh Medical Center – Research