Resources And Other Relevant Links

Medical ID Jewelry. To order and get a 20% discount, simply click on the American Medical ID icon.
Available to anyone ordering through the NGF website. The NGF is now partnering with American Medical ID, the makers of medical identification jewelry. NGF members will received a 20% discount on Medical IDs if ordered through the NGF. The broad selection of styles range from basic to unique – bracelets, necklaces and dog tags – in a variety of metals including stainless steel, sterling silver and 14K gold. Each ID is custom sized and engraved to reflect your personal health conditions, medications and emergency contact information.

Albert Einstein Healthcare Network's Victor Center for Jewish Genetic Diseases
The Victor Center for Jewish Genetic Diseases, at Albert Einstein Medical Center in Philadelphia, raises awareness of Jewish genetic diseases and provides affordable genetic counseling and screening for healthy individuals at risk of being carriers. The Victor Center works with the Jewish community to provide educational programs and college campus outreach and screening.

For additional information, contact our Outreach Coordinator:

Victor Center for Jewish Genetic Diseases

Albert Einstein Medical Center
5501 Old York Rd.
Levy 2 West
Philadelphia, PA 19141
Phone: 215-456-7875
Fax: 215-456-2356
www.victorcenters.org

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.

European Gaucher Alliance
http://www.eurogaucher.org

European Working Group on Gaucher Disease
http://ewggd-cologne.com

Gaucher Voices
The History of the development of a treatment for Gaucher Disease from those who were there. Hear interviews from 2006 with Dr. John Barranger, Dr. Roscoe Brady, Dr. Ernest Buetler, Dr. Ed Ginns, Dr. Robin A. Ely, Dr. Neal Weinreb, Brian Berman, Abbey Meyers, Mary Nathan, Representative Henry Waxman and Henri Termeer, President , Director and Chief Executive of Genzyme Corporation. http://www.gauchervoices.com

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.

500 Kendall Street
Cambridge, MA 02142
Phone: (800) 745-4447
Fax: 617 252 7600

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 Associations around the World
The following countries have established Gaucher associations.

We know of patients and physicians in other countries. If your country is not listed above, e-mail us and we may be able to find someone with knowledge in your own country. www.gaucher.org.uk

Genetic Alliance
Genetic Alliance increases the capacity of genetic advocacy organizations to achieve their missions and leverages the voices of millions of individuals and families living with genetic conditions. With a 20-year history as a 501(c)(3) not-for-profit organization, Genetic Alliance is dedicated to improving the quality of life for everyone living with genetic conditions. We are committed to capacity building in all communities. The technical assistance we provide to advocacy organizations results in measurable growth: increased funding for research, access to services, and support for emerging technologies.

For booklet produced by the Genetic Alliance to help families discuss Gaucher disease with their family click here: How Do I Talk To My Family about Gaucher?

4301 Connecticut Ave. NW
Suite 404
Washington, DC 20008-2369

Main office: (202) 966-5557
Fax: (202) 966-8553
info@geneticalliance.org

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.

Benefits of the Gaucher Registry
In addition to helping physicians better understand Gaucher disease, the Registry can also benefit you. For instance, it can help you and your physician monitor your disease, whether or not you are currently on treatment. When you are enrolled in the Registry, your physician can produce a Patient Case Report every time you have an appointment. This report uses charts, graphs, and text to show how you are progressing on important measures, including: Your bones, blood, liver and spleen and your quality of life. The report contains an overview of your health status as it relates to Gaucher disease. Your physician can review it with you to give you a picture of how your health progresses over time.

Click here for more information about the Gaucher Registry

The Kakkis EveryLife Foundation
Accelerating treatment for rare diseases

The Kakkis EveryLife Foundation is dedicated to improving the diagnosis and treatment of 6,000+ very rare disorders that affect millions of patients.

Cure the ProcessT
The Kakkis EveryLife Foundation
2512 Laguna Vista Drive
Novato, CA 94949
Phone: 415 827 5781
E-mail: info@curetheprocess.org
Website: http://www.curetheprocess.org/

Lysosomal Storage Disease Clinical Care Network
Providing diagnostic and treatment services closer to home for patients with Gaucher, Fabry, MPS 1 and Pompe

Finding a doctor experienced in the lysosomal storage disorders is often a challenge for patients. A doctor to guide care and provide a place to receive infusions is what everyone deserves. That access is critical to the best outcomes in the LSDs.

Dr. John Barranger has been acutely aware of the needs of many patients related to diagnosis, monitoring, participation in the Registry, and a place to get infusions. Recognizing these unmet needs, he has decided to focus his energy on providing expert care for LSD patients. Through a new approach called the Lysosomal Storage Disease Clinical Care Network, he seeks to provide diagnostic and treatment services to patients in a site as close to their home as possible. At present, he is determining where his clinical sites will be most useful for the LSD community.

Dr. Barranger will be the specialized doctor for the disease and responsible for the patient's case including their examination, collection of results, and advice directly to each patient in the office closest to their home. Availability is key to the sense of being well cared for. Access will be provided 24/7.

Commitment to the development of the knowledge of LSDs is a serious responsibility, which he takes as an obligation. Participation in the Registry for each disorder will contribute important knowledge on the disease and its response to treatment. In the LSDCCN sites, contribution of data to Registry will be done and the outcomes of Registry studies shared with patients.

In order to decide where to locate LSDCCN clinics to best serve the community, please let Dr. Barranger know where you are and what services you need. Send an email or make a call. He will be happy talk to you.

John A. Barranger, M.D., Ph.D.
21 Wilson Dr
Pittsburgh PA 15202
412-735-5462
office: 412-734-4672
email:lsdccn@gmail.com

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.

NORD is not a government agency. It is a non-profit, voluntary health agency that exists to serve rare-disease patients and their families. Our primary sources of funding are contributions, membership fees, and revenues from the sale of our products, such as our books and Rare Disease Database reports. Most of the money donated to NORD goes directly to programs and services. Copies of our annual report are available upon request.

NORD was established in 1983 by patients and families who worked together to get the Orphan Drug Act passed. This legislation provides financial incentives to encourage development of new treatments for rare diseases. NORD provides information about diseases, referrals to patient organizations, research grants and fellowships, advocacy for the rare-disease community, and Medication Assistance Programs that help needy patients obtain certain drugs they could not otherwise afford.

National Society of Genetic Counselors Search
National Society of Genetic Counselors, Inc. Search - ResourceLink has been developed to assist consumers in locating genetic counseling services and for students curious about the profession. Genetic Counselors can be searched by State, City, Counselor's Name, Institution or Areas of Practice or Specialization.

Project Hope
For 50 years, Project HOPE (Health Opportunities for People Everywhere) has been fulfilling a promise of better health to people around the world, especially children. Project HOPE has:

• Provided care and health education in more than 100 countries.
• Distributed nearly $2 billion of lifesaving medicines and medical equipment.
• Trained more than two million health care professionals.

The URL is http://www.projecthope.org

Social Security and Disability Resource Center
Many individuals will have the need to file for Social Security Disability benefits. The Social Security and Disability Resource Center website (www.ssdrc.com) provides information on the federal government's two disability benefit programs, title II social security disability benefits and title 16 SSI disability benefits. Covered topics include FAQs, disability applications, denials on claims, the filing of appeals, and how the disability claim evaluation process works.

Here is a link to the site: http://www.ssdrc.com/

Victor Center for Jewish Genetic Diseases
The Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center in Philadelphia raises awareness of Jewish genetic diseases and provides affordable genetic counseling and screening for healthy individuals at risk of being carriers. The Victor Center works with the Jewish community to provide educational programs and college campus outreach and screening.

For more information, please visit www.victorcenters.org, or contact Shoshana Rosen, Outreach Coordinator, at 215-456-8722.

Other Relevant Links

ClincalTrials.gov

Expression Of Hope

Gift of Life Bone Marrow Registry

Healthfinder

Hillel and Jewish Student Organizations

Inherited Metabolic Disorders website

Jewish Virtual Library

National Library of Medicine

New England Journal of Medicine

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