>> Today: Wednesday, 10 March, 2010

Site Map

NGF Medical Board

Home

Translate this page into:

Site Search:

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.

Medical identifications continue to be a critical lifesaving tool for millions of people every day. Anyone living with a rare disease or other medical condition, even allergies such as insect, food or medicine, should wear a custom-engraved ID, in case they are unconscious and unable to speak for themselves. More than 95% of EMTs said they look for medical IDs on people they’re treating. Medical IDs ensure proper care, reduce mistakes, save time, save costs and save lives.

Included with your purchase, American Medical ID offers a free Online Medical Registry, where you can maintain an online personal health database of your medical conditions, emergency contact information, prescriptions, OTC medications, and you can even download files such as living wills, donor cards and medical files like EKGs and CTs. This database can be accessed anytime through a secure online connection or a 24-hour emergency telephone line. You will also have unlimited access around the clock to a registered nurse for emergencies or ongoing health questions.

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

American Society of Hematology (ASH)
Helping Hematologists conquer blood diseases. ASH provides a wide variety of information and resources for patients with blood disorders, such as links to patient support groups, free access to Hematology (containing current disease-specific information discussed at our annual meeting), and a Find a Hematologist feature to help match patients with practicing hematologists in their area.

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.

Cerezyme
This section of Cerezyme.com 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. The information provided in this section includes the following: Learn about Gaucher Disease, Genetics and Gaucher Disease, Living with Gaucher Disease, Reimbursement and patient support

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.

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

Horizons Newsletters

Gaucher Community News published by Genzyme Corporation

Mytestingoptions

A guide to genetic testing information you can use to talk to your doctor.

The URL is http://www.mytestingoptions.com

Face to Face

My Journey for the Gaucher Initiative

Through this journal I will be documenting my journey to meet the faces behind the Gaucher Initiative, a humanitarian program that provides Gaucher patients in developing countries with the enzyme replacement therapy, Cerezyme, free of charge. I have had the rare opportunity to meet with patients and their families and physicians to see how the Gaucher Initiative has and continues to affect their lives. The initiative is a humanitarian program that was established in 1999 to assist people in developing countries who are afflicted with Gaucher Disease. It is based on a collaborative effort in which Genzyme provides the medicine Cerezyme and Project HOPE, a nonprofit humanitarian organization, distributes the drug through its international infrastructure.

Patients accepted into the program are provided with the enzyme replacement therapy Cerezyme, which has been the standard of care for treating Gaucher disease since it was introduced in 1994. More than 250 patients in 19 countries across Asia, Africa, Latin American and the Middle East have benefited from the program. In addition, Genzyme provides free medicine to another 350 people with rare genetic diseases through related initiatives.

Tomye Tierney
Vice President and General Manager of Emerging Markets
Genzyme Corporation
www.facetofacegenzyme.com

Gauchercare.com
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.

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

GiGi and Type 1 Gaucher Disease
The story of Gigi is designed as a tool for parents or guardians to use when explaining Type 1 Gaucher disease and treatment to their child. We hope you enjoy Gigi’s story.

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.

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

Jewish Genetic Diseases Consortium
The JGDC is a group of organizations that have come together in a cooperative spirit to promote education and awareness in the Jewish community about autosomal recessive diseases that occur more frequently in the Ashkenazi Jewish (AJ) population. While these diseases do occur in the non-Jewish population, they are found with significantly greater frequency in the AJ population. The goal of the educational process is to increase awareness about all of these diseases and encourage testing for carrier status which will ultimately prevent the birth of affected children.

Member Organizations:

Phone: (866) 370 GENE (4363)
email: info@jewishgeneticdiseases.org
315 West 39th Street, Suite 701
New York, NY 10018

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 Process™
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 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 Museum of Health and Medicine
The Museum is an elemement of the Armed Forces Institute of Pathology on campus at Walter Reed Army Medical Center in Washington, D.C. The Museum is home to exhibits including: Historical: More than 5,000 skeletal specimens and 10,000 preserved organs document medical cases of disease and injury. Human Developmental: More than 12,000 objects, including X-ray equipment, microscopes, surgical instruments, numismatics, and anatomical models. Human Developmental Anatomy Center (HDAC): Maintains the largest collection of embryologic material in the United States. The Center is a primary source for centralized research in developmental anatomy, Neuroanatomical: Nine different collections focusing on human and non-human neuroanatomy and neuropathology, Otis Historical Archives More than 350 collections document the practice of medicine from the Civil War to the present.

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.

Pen Pals
Find a Pen Pal -To help your child cope with Gaucher disease, Genzyme offers a Gaucher Pen Pals Program.

Children with this disorder may find it valuable to communicate with peers who have been through experiences such as chronic fatigue, bone pain and other symptoms, and enzyme replacement therapy. Such support and understanding may help them to cope with the disease. The Gaucher Pen Pals program may help you find such a friend for your son or daughter with Gaucher disease. Participating children can share what it’s like for them to have Gaucher disease, write to each other, share stories, and help each other out. The information in the Pen Pal program is considered confidential. The information will be used only to facilitate Pen Pal correspondence and will not be shared with anyone not directly involved in the Pen Pal program without your permission.

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

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.

From discovery and development to manufacturing and support, our more than 600 employees are focused on translating innovative science into treatments for patients. The people of Shire HGT are passionate about using our technologies to offer hope to patients with genetic diseases and their families for better, healthier lives.

Patient and Physician website
Shire Human Genetic Therapies (Shire HGT): www.shire.com/shire/Pipeline/index.jsp?tn=5

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.

Patient and Physician website: www.gaucherpatients.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.