NGF Blog


Embracing the Role of Epigenetics in Gaucher Disease

Man practicing mindfulness in nature to help cause epigenetic changes that affect the course of Gaucher disease.

People living with Gaucher disease understand the role genetics plays in health. But experts know your genetic makeup isn’t the only factor—diet, environment, and your body’s reaction to internal and external stressors also affect your health.

But how much of an impact can these influences have? Can they affect the course of a disease such as Gaucher disease?

To get answers to these questions, we turned to Robin Ely, MD. She practices integrative medicine and approaches health and wellness by considering a person’s mind, body, and spirit. Dr. Ely also understands the complexities of Gaucher disease. She’s a founder of the National Gaucher Foundation (NGF) and a Clinical Consultant for the NGF Global Diagnostic Initiative.

“The best thing anyone can do for their health is recognize that what you do in your life matters, especially if you live with a genetic disease,” Dr. Ely says. “Your everyday choices, thoughts, and actions make a huge difference in your health and how you feel.”

Experts refer to the physical changes caused by your behavior and environment as epigenetic changes. When you understand the impact of epigenetics, Dr. Ely says, you gain a little more control over your health.

What is Epigenetics?

Your DNA is your body’s instruction manual, but how your body “reads” that DNA sequence can change. Chemical reactions turn certain genes on or off, changing your genetic expression (how your genes function). Epigenetics is the study of those chemical reactions and the factors that influence them.

Think of your health as a house, explains Dr. Ely. Genetics is the blueprint for your house. That blueprint provides a layout that may slightly change (adding a doorway, changing a window, or taking down part of a wall) but mostly stays the same. However, you may completely change the interior design over time, affecting the feel and function of that house. Two houses may have identical or similar layouts but feel entirely different based on the choices made by the homeowner. The design of a house (unlike the layout or blueprint) is easier to change, and some choices make the house function better; some make it worse.

When it comes to your health, your behavior and environment are the factors (“design choices”) that change how your genes work. These factors can be:

  • External, such as the quality of your diet, how much you exercise, and your exposure to toxins.
  • Internal, which can include infection, your body’s natural immune response, and how your body manages stress.

“You cannot control all the epigenetic factors you experience,” Dr. Ely says. “But you can avoid or decrease certain stressors and change how you react to the stress you encounter.”

Can Epigenetic Changes Alter the Course of a Genetic Disorder?

Your genes may provide a predisposition for a disorder. But behavioral and environmental factors can affect your likelihood to develop that disorder. If you’ve already developed a disorder, epigenetic factors can change how your body reacts to that disorder.

“We know that epigenetics can decrease symptoms or slow down progression of a disorder,” Dr. Ely says. “But the tendency toward the disease process is still there.”

When thinking about epigenetics, Dr. Ely suggests focusing on the idea of control versus cure. She points to people with diabetes—taking insulin, eating the right foods at the right time, and exercising can affect how their body reacts to the disease. Those epigenetic factors don’t change the fact that they have diabetes but can change how their body handles it.

In the same way, epigenetic factors are never going to cure Gaucher disease. But they do have the potential to affect the symptoms and inflammation associated with Gaucher disease.

Epigenetic Interventions and Gaucher Disease

Anyone can take proactive steps to initiate positive epigenetic changes. For people living with Gaucher disease, it’s a matter of finding the lifestyle practices and behaviors that target your specific Gaucher symptoms.

“Ask yourself a couple of questions,” Dr. Ely says. “What can I do to mitigate (lessen the impact of) the process that’s occurring in my body genetically? What are the things I can change, given my genetic tendency towards x, y, or z?”

Many people with Gaucher disease already rely on epigenetic intervention in the form of Gaucher disease treatment. But there are also other ways to introduce epigenetic change.

Enzyme therapy as an epigenetic intervention

Some therapies and treatments fall under the category of epigenetic intervention because they don’t change the DNA. But they do alter the body’s reaction to that DNA. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are common epigenetic interventions used to treat Gaucher disease.

“ERT and SRT do not change the programming of the genes. They’re not altering the mutation like gene therapy does,” Dr. Ely says. “But they alter the course of the disease by changing what’s happening in the body.”

ERT and SRT address enzyme deficiency and manage glucocerebroside build-up, which in turn:

  • Minimizes inflammation in the spleen and liver
  • Reduces the destruction of bone tissue

Gaucher treatments can lessen the effects of the disease. But they don’t always eliminate all the symptoms. Combining ERT or SRT with additional epigenetic interventions provides the most benefit for people living with Gaucher disease.

Other epigenetic interventions for Gaucher disease

Depending on what type of symptoms you experience, there are behaviors and choices you can make to affect those symptoms.

“How you manage the symptoms of Gaucher disease is often highly individualized,” Dr. Ely says. “There are patients who have bone pain or bone disease and others who don’t have any issues with their bones but may have blood symptoms.”

Not every provider understands the epigenetic interventions that might benefit your symptoms. Dr. Ely recommends finding healthcare practitioners who practice integrative medicine or specialize in nutrition, physical therapy, or a field specific to your goal. Epigenetic interventions you may want to consider include:

  • Dietary and supplemental changes: Making small changes to your diet and adding the appropriate supplements can improve bone and blood symptoms. Addressing issues in your gut microbiome can also reduce the inflammation and stress your body experiences.
  • Mindfulness: Practicing mindfulness and meditation has a direct effect on lowering your internal stress level. Dr. Ely recommends using an app or video to help you incorporate more mindfulness.
  • Physical activity: Increased physical activity can help reduce inflammation. But choose exercises that target your symptoms. For example, try weight bearing exercises and use a vibration plate to help with bone symptoms.

The goal is to decrease the inflammation and stress your body handles. Stress is not what happens to us in life, Dr. Ely explains. It’s how we react to it that makes a difference.

“Epigenetic changes can begin with small changes. Walk in nature, listen to music you enjoy, and spend a little time alone each day,” Dr. Ely says. “Taking steps to reduce the stress in your life can have big physical effects on your health.”

How the National Gaucher Foundation Can Help

If you or a loved one lives with Gaucher disease, the National Gaucher Foundation is here for your family. We offer resources to optimize your health with Gaucher disease and connect you with the support you need.


Living a Better Today

Skip to content