National Gaucher Foundation strongly supports your efforts to better understand the diagnosis and treatment of Gaucher disease. We’re committed to providing you with information and resources you can use to provide excellent care for your patients with Gaucher disease.

Screening and Testing for Gaucher Disease

Carrier screening for couples in high-risk ethnic groups, including much of the Jewish population, is critical. Physicians are in a prime position to discuss the benefits of carrier screening with their patients. When couples know the results, they can better plan for their future.

NGF previously partnered with JScreen, a community-based public health initiative committed to preventing Jewish genetic diseases through increased awareness and screening, to help individuals determine their risk for passing on the genes that cause Gaucher disease. People can take advantage of this screening initiative in the comfort of their own homes — they simply need to request a kit from JScreen, provide a saliva sample, and wait for the results. Some patients may even be able to receive their testing kit at no charge.

If the initial screening test indicates your patient has Gaucher disease, or your patient is experiencing signs or symptoms of the disease, a specific enzyme test known as a beta-glucosidase leukocyte (BGL) test can confirm the diagnosis. This simple blood test can help you identify patients with Gaucher disease and determine the next steps in their care. Learn more about diagnosing Gaucher disease.

When Your Patient Has Gaucher Disease: Resources for Physicians

If you have a patient that’s recently been diagnosed with Gaucher disease, you may not know what the next steps should be, especially if you are unfamiliar with the condition. NGF provides many resources so your patient can consult with a physician expert in Gaucher disease right away.

To help you determine how to best care for your patients, NGF has spearheaded the Gaucher disease Optimal Health Initiative. This initiative provides information on:

  • Finding Gaucher specialists to help manage treatment
  • Strategies to help patients best take care of themselves at home

If you need further assistance:

  • Optimal Health Advisors: NGF’s Optimal Health Advisors stand ready to help you connect with Gaucher disease specialists and discover how you can best help patients living with Gaucher disease.
  • Provider database: NGF has also created a thorough database of providers and treatment centers that care for patients with Gaucher disease. Use this treatment finder to obtain the information you need to provide care for your patients. For more information, connect with Dr. Robin Ely, NGF’s Clinical Director.
  • Medical Advisory Board: You are also invited to contact NGF’s Medical Advisory Board for expert advice and information on Gaucher disease research and treatment.

Gaucher Community Financial Assistance Resources

Living with Gaucher disease can be a tremendous financial burden. For patients living in the United States who can demonstrate extraordinary financial hardship, NGF has committed to providing financial assistance through the CARE Programs These programs are designed to help with insurance premiums, thereby enabling eligible community members access to quality healthcare and disease management.

Clinician Achievements

Caring for patients with Gaucher disease is a team effort. Highly skilled physicians and other healthcare professionals work together to provide patients the care they need. NGF supports these collaborative efforts by highlighting new discoveries that can lead to professional growth and greater funding for Gaucher research.

NFG remains committed to helping physicians advance their knowledge of Gaucher disease through clinical research. If you or a colleague are currently conducting research and are seeking study participants, email Amy Blum, NGF Chief Operating Officer, to share your information.

Gaucher Disease News and Events

Each year, NGF hosts an annual symposium to raise awareness for Gaucher disease. The symposium is an opportunity for physicians and other healthcare professionals to learn about the latest trends in research and treatment innovations. Find out more about news that focus on Gaucher disease, including information on clinical practice updates and how you can become involved.

Gaucher Disease Specialists: Lend Your Expertise

Are you a Gaucher disease subject matter expert? We would love for you to lend your expertise to other physicians and research scientists, in order to advance both their work and our understanding of Gaucher disease. You can also join the International Collaborative Gaucher Group (ICGG) Gaucher Registry to learn more about clinical outcomes for Gaucher patients worldwide. For more information, contact Dr. Robin Ely, NGF’s Clinical Director. 

Patient Educational Resources for Gaucher Disease

NGF is proud to provide a wide range of patient education materials to all healthcare providers on many topics, including information on creating a care team and Gaucher disease support resources for patients and families. From print-on-demand materials to written brochures, NGF stands ready to help you give your patients the information they need. For more information, contact the NGF office. 

In 2018, physicians joined together for our first physician symposium. You can view the syllabus here.

Stay tuned for future learning opportunities for physicians.

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